Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6323
Gene name Gene Name - the full gene name approved by the HGNC.	Sodium voltage-gated channel alpha subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SCN1A
Synonyms (NCBI Gene) Gene synonyms aliases	DEE6, DEE6A, DEE6B, DRVT, EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium cha

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SNP ID	Visualize variation	Clinical significance	Consequence
rs3812718	C>T	Drug-response, risk-factor	Intron variant
rs35595680	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs114137271	T>C,G	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Non coding transcript variant, 5 prime UTR variant, synonymous variant, coding sequence variant
rs116478064	G>A	Benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, synonymous variant, coding sequence variant
rs121917918	C>A,T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917923	G>A,T	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917927	C>G,T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917928	C>A	Likely-pathogenic, not-provided	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917929	G>A,T	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917935	C>A,T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917937	A>C	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917938	A>G	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917953	T>A	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917957	C>T	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917959	C>A,G,T	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, synonymous variant
rs121917964	T>C	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917965	G>A	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917969	A>G	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121917971	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121917972	C>T	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121917982	C>G,T	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917983	G>A,C	Likely-pathogenic, not-provided, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917984	G>A,C	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917985	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917989	A>G,T	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917990	T>A,C	Not-provided, uncertain-significance, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918623	G>A,T	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918624	G>A	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs121918631	A>G,T	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918733	A>G	Likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918734	A>G	Uncertain-significance, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918735	G>A,T	Likely-benign, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, synonymous variant
rs121918736	G>A,C	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918737	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918745	G>A	Likely-pathogenic, not-provided	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918753	C>G,T	Likely-pathogenic, not-provided	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918754	C>A,T	Not-provided, pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs121918768	C>A	Uncertain-significance, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918770	C>A,T	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918773	A>G	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918774	C>G,T	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918775	G>A,T	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918781	A>G	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918784	G>A	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918785	C>T	Likely-pathogenic, uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918788	G>A	Not-provided, pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918795	G>C,T	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918817	C>T	Uncertain-significance, benign, not-provided, likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs141950573	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs145035963	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, non coding transcript variant, missense variant, synonymous variant, coding sequence variant
rs145662732	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, synonymous variant, non coding transcript variant
rs146515561	G>A,C,T	Pathogenic	5 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant, stop gained
rs148442069	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs200034964	T>C,G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs200176684	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs201985242	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs373417440	T>C	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs397514459	G>A,C,T	Pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant, synonymous variant
rs398123579	C>G	Pathogenic	Splice acceptor variant
rs398123580	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs398123584	T>A,C	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs398123585	G>A,T	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant, synonymous variant
rs398123588	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs398123600	T>C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, non coding transcript variant, synonymous variant
rs544692790	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs549232924	A>-,AA,AAA	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs727504140	T>C	Pathogenic	Splice acceptor variant
rs727504142	C>G	Pathogenic, uncertain-significance	Intron variant
rs727504143	T>A,G	Likely-pathogenic, uncertain-significance	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs745664511	A>G	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs748267258	A>G,T	Likely-pathogenic	Synonymous variant, missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs750209664	C>A,G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs751533302	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs752918105	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant, synonymous variant
rs754032480	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs758871507	A>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs759923734	G>C,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs760361423	C>A,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs762038032	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs763400390	C>A,T	Pathogenic	Splice acceptor variant
rs764444350	T>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs767045134	T>A,C	Pathogenic, uncertain-significance	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs773407463	A>C,G	Pathogenic	Non coding transcript variant, missense variant, synonymous variant, coding sequence variant, 5 prime UTR variant
rs773695263	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs775214722	A>G,T	Pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs779184118	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs781507889	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs781746113	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs786200989	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs786205214	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726695	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726697	G>A,T	Pathogenic, likely-benign	Coding sequence variant, non coding transcript variant, stop gained, synonymous variant
rs794726704	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726708	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726711	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726712	A>C,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs794726713	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726714	AC>-	Pathogenic	Splice donor variant
rs794726715	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs794726716	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726717	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726718	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726719	C>G,T	Pathogenic, likely-benign	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs794726721	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs794726724	AGAA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726725	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726732	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726736	G>A,T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, synonymous variant
rs794726738	CG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794726742	C>A,T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs794726743	C>A,T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs794726747	T>A,G	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs794726749	C>A,T	Pathogenic	Splice donor variant
rs794726750	->GGTC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726751	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726753	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726755	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726761	A>G,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs794726762	C>G,T	Pathogenic	Intron variant
rs794726764	G>C	Pathogenic	Splice acceptor variant
rs794726765	C>A,T	Pathogenic	Splice donor variant
rs794726766	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726767	CA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726768	T>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726771	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726772	C>A	Pathogenic	Splice donor variant
rs794726773	T>C	Pathogenic	Intron variant
rs794726775	T>A	Pathogenic	Intron variant
rs794726776	GC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726777	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726778	G>A,C	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs794726782	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726786	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726787	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794726788	CCATTATAAT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726790	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726792	CCAACTGAAGGTATCAAAGC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726793	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726794	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726795	A>T	Pathogenic	Intron variant
rs794726796	TTCC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726797	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726798	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726799	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726803	T>C	Pathogenic	Splice donor variant
rs794726805	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726806	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726807	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726808	TACAGTCCCA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794726810	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726811	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726812	->TATAC	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, inframe indel
rs794726815	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs794726818	GT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726820	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726823	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726824	C>T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs794726826	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726827	C>A,G,T	Pathogenic	Splice donor variant
rs794726828	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726829	TCTG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726831	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726833	T>G	Pathogenic	Intron variant
rs794726834	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726837	A>C	Pathogenic	Intron variant
rs794726838	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, missense variant
rs794726840	C>G	Pathogenic	Splice donor variant
rs794726842	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726843	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726844	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726846	->CA	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726847	T>A,G	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs794726848	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726849	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794727786	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796052953	C>T	Pathogenic	Splice acceptor variant
rs796052957	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052959	C>T	Pathogenic	Splice acceptor variant
rs796052960	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052961	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052962	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052963	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052964	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052965	C>T	Likely-pathogenic	Intron variant
rs796052969	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052971	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052972	C>A,G,T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs796052973	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052974	A>C,G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052976	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs796052977	C>G,T	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs796052981	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs796052982	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs796052983	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs796052984	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs796052985	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs796052986	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs796052988	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs796053016	G>A,C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs796053047	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053050	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053051	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053052	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053053	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053054	->A	Pathogenic, uncertain-significance	Splice donor variant
rs796053055	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053056	->CTACT	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, inframe indel
rs796053057	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053058	CTTTC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053059	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053060	->TCGC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053062	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053064	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053065	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs796053066	->TAA	Pathogenic	Coding sequence variant, non coding transcript variant, inframe indel, 5 prime UTR variant
rs796053075	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053076	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053089	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053090	C>A,G	Likely-pathogenic, uncertain-significance	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs796053091	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053092	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053093	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053094	A>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053095	A>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053105	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs796053106	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs797044981	GCCAAGACG>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs797044985	A>C	Pathogenic	Splice donor variant
rs797045941	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs863225030	C>A,T	Pathogenic	Splice donor variant
rs863225031	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs863225038	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs878854262	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886039430	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs886039456	G>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs886039464	A>G	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs886041292	C>G,T	Pathogenic	Splice donor variant, 5 prime UTR variant
rs886041442	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041501	->T	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041604	A>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs886041644	CG>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041716	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886041733	->A	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041926	->A	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041937	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886041939	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041961	CA>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041969	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs886041980	C>-	Pathogenic	Splice donor variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs886042004	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042528	C>T	Likely-pathogenic, uncertain-significance	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs886043534	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, synonymous variant, non coding transcript variant
rs886043864	C>G	Pathogenic	Splice donor variant
rs970867558	A>G	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1057517849	C>A	Pathogenic	Splice donor variant
rs1057517862	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1057517959	C>A,T	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant, stop gained
rs1057518094	T>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1057518110	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs1057518112	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs1057518129	C>-	Pathogenic	Splice donor variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1057518243	C>A,T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1057518325	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519529	C>G	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1057519530	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1057519531	T>C	Pathogenic	Splice acceptor variant
rs1057520486	C>T	Pathogenic	Intron variant
rs1057521080	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057523858	A>T	Likely-pathogenic, pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1057524737	C>G,T	Likely-pathogenic, uncertain-significance	Intron variant
rs1057524752	T>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1060502185	G>C,T	Likely-pathogenic	Intron variant
rs1060502187	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064793315	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1064793341	->AC	Pathogenic	Splice donor variant
rs1064793678	GTTCTCAATGCCGA>TGTG	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064793803	->A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs1064794147	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064794252	CA>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064794503	->AGGGGAAAATACA	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064794508	G>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064794634	C>G	Likely-pathogenic	Intron variant
rs1064794913	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1064795078	->AAATG	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064795227	->A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064795620	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs1064795735	T>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1064795736	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064796087	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064796213	->CA	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs1064796384	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1064796824	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs1064797019	T>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064797266	G>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1085307520	T>C,G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1085307892	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1131691465	T>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1131691545	A>G	Pathogenic	Splice donor variant
rs1266877537	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1553541066	AGTAAGGCACATGG>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553541473	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553542199	->GATA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553543215	AA>-	Pathogenic, likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553544470	CTAT>-	Likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553544559	A>T	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553544579	AATCCACAG>T	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553544821	C>A	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553545522	TGATG>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553545567	T>A	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553545660	TTCTT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553545742	ACTTA>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553546668	T>A	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553546763	C>A	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553546789	G>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553546836	C>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553546981	G>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553547380	C>G,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs1553547448	A>T	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553548063	C>T	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553548096	A>C,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs1553548194	AAT>-	Pathogenic, likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, inframe deletion
rs1553549471	C>A,G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs1553549483	GTCA>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553549660	G>T	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553549717	C>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553549834	A>C	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553549845	A>T	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553549902	A>G	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553549997	GGCCT>TTGTGG	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, splice acceptor variant
rs1553550552	C>G	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553550618	T>C	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553550625	GACGT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553551304	CTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGA>-	Pathogenic	Splice donor variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs1553551314	GCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATAATTTTTATAAGTGATTCAAAAGTATATATTCCTGTGAAGGTGTAT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, inframe deletion
rs1553551385	G>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553551425	->A	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553551493	A>G	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553552270	TCTACATTCTTTGTCCAATCAGGAGGGTTACTCATTGTCATAAACACACAGTTTGTCAAAATAGTGCACATAATTAGCATGCTGAATAAT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, inframe deletion
rs1553552319	->C	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553552390	A>C	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553553462	G>C	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553553485	G>C	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553553614	G>C	Likely-pathogenic	Intron variant
rs1553560676	CTCACT>GGCA	Pathogenic	Splice donor variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs1553560677	C>G	Likely-pathogenic	Splice donor variant
rs1553560740	->ATC	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, inframe insertion
rs1553560760	AGGTTCTTTCCA>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, inframe deletion
rs1553560831	T>-,TT	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553561016	C>T	Pathogenic	5 prime UTR variant, initiator codon variant, non coding transcript variant, missense variant
rs1553561023	A>G	Pathogenic, likely-pathogenic	5 prime UTR variant, initiator codon variant, non coding transcript variant, missense variant
rs1559199628	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559200672	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559200901	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559210063	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1559216338	->TC	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1559217391	->G	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1559220874	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1559221910	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs1559225495	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1559238432	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs1559245847	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs1559249734	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs1574182550	CA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574183148	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1574192005	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1574192998	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1574201555	A>G	Likely-pathogenic	Splice donor variant, 5 prime UTR variant
rs1574201591	TTCCTACTGTAAGCACATT>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574208760	GCTA>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574209023	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs1574214734	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1574216450	GTCTCTCTCCGTG>ACCTGAGTGCACAAACAAGGAATC	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574217232	->G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574223964	->T	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574224274	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574225593	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574240716	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574263047	C>T	Likely-pathogenic	Splice donor variant
rs1574263819	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574264920	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574265144	->TTGCC	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574265485	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574266816	C>-	Pathogenic	Splice acceptor variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1574271602	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574271644	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574271827	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574272192	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574281711	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs1574282312	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574290850	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574291210	T>G	Likely-pathogenic	Intron variant
rs1574302195	AAGATGG>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574312497	C>T	Likely-pathogenic	Intron variant
rs1574370981	CACT>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, intron variant, splice donor variant
rs1574371141	TCTT>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant, 5 prime UTR variant
rs1574371902	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant

Show/Hide all(163)

miRTarBase ID	miRNA	Experiments	Reference
MIRT038738	hsa-miR-93-3p	CLASH	23622248
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT627648	hsa-miR-548u	HITS-CLIP	23824327
MIRT627647	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT627648	hsa-miR-548u	HITS-CLIP	23824327
MIRT627647	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT613602	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613602	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT575479	hsa-miR-4783-5p	HITS-CLIP	27418678
MIRT575479	hsa-miR-4783-5p	HITS-CLIP	27418678
MIRT575476	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575476	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575477	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575477	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575478	hsa-miR-933	HITS-CLIP	27418678
MIRT575478	hsa-miR-933	HITS-CLIP	27418678
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT627648	hsa-miR-548u	HITS-CLIP	23824327
MIRT627647	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT627648	hsa-miR-548u	HITS-CLIP	23824327
MIRT627647	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT613602	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613602	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT1329734	hsa-miR-369-3p	CLIP-seq
MIRT1329735	hsa-miR-374a	CLIP-seq
MIRT1329736	hsa-miR-374b	CLIP-seq
MIRT1329737	hsa-miR-3180-5p	CLIP-seq
MIRT1329738	hsa-miR-338-3p	CLIP-seq
MIRT1329739	hsa-miR-4530	CLIP-seq
MIRT1329740	hsa-miR-106a	CLIP-seq
MIRT1329741	hsa-miR-106b	CLIP-seq
MIRT1329742	hsa-miR-1286	CLIP-seq
MIRT1329743	hsa-miR-17	CLIP-seq
MIRT1329744	hsa-miR-20a	CLIP-seq
MIRT1329745	hsa-miR-20b	CLIP-seq
MIRT1329746	hsa-miR-3148	CLIP-seq
MIRT1329747	hsa-miR-4722-5p	CLIP-seq
MIRT1329748	hsa-miR-519a	CLIP-seq
MIRT1329749	hsa-miR-519b-3p	CLIP-seq
MIRT1329750	hsa-miR-519c-3p	CLIP-seq
MIRT1329751	hsa-miR-519d	CLIP-seq
MIRT1329752	hsa-miR-520g	CLIP-seq
MIRT1329753	hsa-miR-520h	CLIP-seq
MIRT1329754	hsa-miR-93	CLIP-seq
MIRT2097750	hsa-miR-1179	CLIP-seq
MIRT1329737	hsa-miR-3180-5p	CLIP-seq
MIRT1329738	hsa-miR-338-3p	CLIP-seq
MIRT1329739	hsa-miR-4530	CLIP-seq
MIRT2322028	hsa-miR-132	CLIP-seq
MIRT2322029	hsa-miR-212	CLIP-seq
MIRT2322030	hsa-miR-3120-3p	CLIP-seq
MIRT2322031	hsa-miR-3192	CLIP-seq
MIRT2322032	hsa-miR-3689a-3p	CLIP-seq
MIRT2322033	hsa-miR-3689c	CLIP-seq
MIRT2322034	hsa-miR-3941	CLIP-seq
MIRT2322035	hsa-miR-4519	CLIP-seq
MIRT2322036	hsa-miR-466	CLIP-seq
MIRT2322037	hsa-miR-4672	CLIP-seq
MIRT2322038	hsa-miR-4728-5p	CLIP-seq
MIRT2322039	hsa-miR-4797-5p	CLIP-seq
MIRT2322040	hsa-miR-548ac	CLIP-seq
MIRT2322041	hsa-miR-548ae	CLIP-seq
MIRT2322042	hsa-miR-548aj	CLIP-seq
MIRT2322043	hsa-miR-548am	CLIP-seq
MIRT2322044	hsa-miR-548d-3p	CLIP-seq
MIRT2322045	hsa-miR-548x	CLIP-seq
MIRT2322046	hsa-miR-548z	CLIP-seq
MIRT2322047	hsa-miR-599	CLIP-seq
MIRT2097750	hsa-miR-1179	CLIP-seq
MIRT2394085	hsa-miR-409-3p	CLIP-seq
MIRT2394086	hsa-miR-4781-3p	CLIP-seq

Show/Hide all(53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IEA
GO:0001518	Component	Voltage-gated sodium channel complex	IBA
GO:0001518	Component	Voltage-gated sodium channel complex	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IBA
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IMP	14672992
GO:0005248	Function	Voltage-gated sodium channel activity	ISS
GO:0005248	Function	Voltage-gated sodium channel activity	NAS	10742094
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IDA	14672992
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	NAS	10742094
GO:0007628	Process	Adult walking behavior	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0014704	Component	Intercalated disc	IEA
GO:0016020	Component	Membrane	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0019227	Process	Neuronal action potential propagation	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0021675	Process	Nerve development	IEA
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	ISS
GO:0030315	Component	T-tubule	IEA
GO:0030424	Component	Axon	IEA
GO:0033268	Component	Node of Ranvier	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034706	Component	Sodium channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043194	Component	Axon initial segment	IEA
GO:0050884	Process	Neuromuscular process controlling posture	IEA
GO:0050966	Process	Detection of mechanical stimulus involved in sensory perception of pain	IEA
GO:0050966	Process	Detection of mechanical stimulus involved in sensory perception of pain	ISS
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	27207958
GO:0086010	Process	Membrane depolarization during action potential	IEA
GO:0086010	Process	Membrane depolarization during action potential	IMP	14672992
GO:0086010	Process	Membrane depolarization during action potential	ISS
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA	22150645
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP	22150645
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS	22150645

MIM	HGNC	e!Ensembl
182389	10585	ENSG00000144285

Protein

UniProt ID

P35498

Protein name

Sodium channel protein type 1 subunit alpha (Sodium channel protein brain I subunit alpha) (Sodium channel protein type I subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.1)

Protein function

Pore-forming subunit of Nav1.1, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent s

PDB

7DTD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	127 → 434	Ion transport protein	Family
PF11933	Na_trans_cytopl	501 → 718	Cytoplasmic domain of voltage-gated Na+ ion channel	Family
PF00520	Ion_trans	767 → 1002	Ion transport protein	Family
PF06512	Na_trans_assoc	1006 → 1213	Sodium ion transport-associated	Family
PF00520	Ion_trans	1217 → 1493	Ion transport protein	Family
PF00520	Ion_trans	1540 → 1797	Ion transport protein	Family

Sequence

MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKN
LPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKI
AIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCL
EDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGAL
IQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCIQWPPTNASLEEHSIEKNITVNY
NGTLINETVFEFDWKSYIQDSRYHYFLEGFLDALLCGNSSDAGQCPEGYMCVKAGRNPNY
GYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILA
VVAMAYEEQNQATLEEAEQKEAEFQQMIEQLKKQQEAAQQAATATASEHSREPSAAGRLS
DSSSEASKLSSKSAKERRNRRKKRKQKEQSGGEEKDEDEFQKSESEDSIRRKGFRFSIEG
NRLTYEKRYSSPHQSLLSIRGSLFSPRRNSRTSLFSFRGRAKDVGSENDFADDEHSTFED
NESRRDSLFVPRRHGERRNSNLSQTSRSSRMLAVFPANGKMHSTVDCNGVVSLVGGPSVP
TSPVGQLLPEVIIDKPATDDNGTTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASIL
TNTVEELEESRQKCPPCWYKFSNIFLIWDCSPYWLKVKHVVNLVVMDPFVDLAITICIVL
NTLFMAMEHYPMTDHFNNVLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIV
TLSLVELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAII
VFIFAVVGMQLFGKSYKDCVCKIASDCQLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCM
EVAGQAMCLTVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMH
KGVAYVKRKIYEFIQQSFIRKQKILDEIKPLDDLNNKKDSCMSNHTAEIGKDLDYLKDVN
GTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEE
SKEKLNESSSSSEGSTVDIGAPVEEQPVVEPEETLEPEACFTEGCVQRFKCCQINVEEGR
GKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFT
YIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRA
LRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINTT
TGDRFDIEDVNNHTDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYA
AVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFM
TEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILICLNMVTMMV
ETDDQSEYVTTILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFVVVILSIVGMF
LAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLV
MFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSKPPD
CDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPL
SEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLPQPNKLQLIAMDLPMVSGD
RIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYQPITTTLKRKQEEVSAV
IIQRAYRRHLLKRTVKQASFTYNKNKIKGGANLLIKEDMIIDRINENSITEKTDLTMSTA
ACPPSYDRVTKPIVEKHEQEGKDEKAKGK

Sequence length

2009

Interactions

View interactions

	KEGG		Reactome
	Dopaminergic synapse		Phase 0 - rapid depolarisation

Show/Hide Causal Diseases (12)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy 6B, Developmental and epileptic encephalopathy, 6, Developmental and epileptic encephalopathy, 1	rs1559200901, rs886041961, rs794726823, rs796053072, rs794726726, rs121917923, rs794726754, rs796053004, rs121918780, rs1553551385, rs794726822, rs794726730, rs1574006857, rs121917980, rs796053095	N/A
Epilepsy	Autosomal dominant epilepsy, epilepsy	rs1553546836, rs77216276, rs398123588, rs1559127505, rs794726762, rs1559118914, rs796053035, rs121918622, rs751533302, rs121917993	N/A
Epilepsy With Febrile Seizures Plus	generalized epilepsy with febrile seizures plus, type 2, generalized epilepsy with febrile seizures plus, type 1	rs121918631, rs794726730, rs794726744, rs121917957, rs121918734, rs121917980, rs1064796384, rs121918783, rs1240187329, rs2105816922, rs121918781, rs794726784, rs121917930, rs121918627, rs796053091 View all (46 more)	N/A
Epileptic Encephalopathy	early infantile epileptic encephalopathy with suppression bursts	rs121917945, rs1573950349, rs1131691693, rs1697473667, rs121918753, rs1559105368, rs1574166948, rs794726772, rs121918623, rs1060502190, rs1553519902, rs869312684, rs1553547380, rs121917965, rs1553543215 View all (437 more)	N/A
Epileptic encephalopathy	epileptic encephalopathy	rs1057519529, rs794726754, rs796053083	N/A
focal epilepsy	Focal epilepsy	rs121917993, rs121917994	N/A
Hemiplegic Migraine	migraine, familial hemiplegic, 3	rs121917965, rs121917995, rs121918632, rs794726759, rs121918628, rs886039430, rs121917918, rs77216276, rs794726825, rs121917976, rs794726762, rs794726752, rs121918633, rs794726710, rs121917927	N/A
Mental retardation	intellectual disability	rs781746113, rs1085307484, rs121918624, rs794726770	N/A
Myoclonic Epilepsy	Severe myoclonic epilepsy in infancy	rs121918741, rs794726800, rs781746113, rs794726766, rs794726783, rs796053010, rs1689139851, rs794726840, rs121917949, rs398123585, rs794726841, rs727504136, rs121917986, rs121918811, rs794726797 View all (353 more)	N/A
seizure	Seizure	rs794726799, rs797045941, rs1574192005, rs1553531385, rs863225030, rs121918736, rs886039529, rs794726825, rs794726710, rs398123588, rs794726697, rs121918751, rs121918735	N/A
Febrile seizures	Febrile seizure (within the age range of 3 months to 6 years)	rs1553553485	N/A
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY	macrocephaly and epileptic encephalopathy	rs121917995	N/A

Show/Hide Unknown Diseases (9)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
autism	Autism	N/A	N/A	ClinVar
Biliary Atresia	Biliary atresia	N/A	N/A	GWAS
Dental caries	Dental caries	N/A	N/A	GWAS
Generalized Epilepsy With Febrile Seizures Plus	generalized epilepsy with febrile seizures plus	N/A	N/A	ClinVar
Malignant migrating partial seizures of infancy	malignant migrating partial seizures of infancy	N/A	N/A	GenCC
Mesial temporal lobe epilepsy with hippocampal sclerosis	Mesial temporal lobe epilepsy with hippocampal sclerosis	N/A	N/A	GWAS
Microcephaly	microcephaly	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
West Syndrome	west syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (138)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Disease	Associate	21426328
Acute Febrile Encephalopathy	Associate	19214208, 20491869, 21906962, 22092154, 22309220
Alcohol Related Disorders	Associate	31765958
Alzheimer Disease	Associate	38061235
Angelman Syndrome	Associate	36750385
Anxiety Disorders	Associate	19464195
Apnea	Associate	35696452
Arrhythmias Cardiac	Associate	30146492
Arthrogryposis	Associate	32928894, 33820833, 35696452
Ataxia	Associate	19464195, 22000312
Atrophy	Associate	37344172
Attention Deficit Disorder with Hyperactivity	Associate	21426328
Autism Spectrum Disorder	Associate	21572417, 22495309, 26637798, 27956748, 30071822, 32722525, 33460646
Autistic Disorder	Associate	21906962, 34368859, 37583270
Body Dysmorphic Disorders	Associate	26993267
Bone Diseases Developmental	Associate	33820833
Bradycardia	Associate	28732259
Brain Diseases	Associate	18413471, 20879882, 21426328, 21753172, 23586701, 24776920, 25268096, 25818041, 27236449, 28518218, 29190809, 29466837, 29981888, 32193085, 32928894 View all (4 more)
Brain Ischemia	Associate	21426328
Cardiovascular Abnormalities	Associate	28732259
Channelopathies	Associate	21555645, 33712547
Charcot Marie Tooth disease Type 1D	Associate	26544041
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	28794249
Cognition Disorders	Associate	24328833, 28012175, 30735520, 38167335
Cognitive Dysfunction	Associate	21906962
Colorectal Neoplasms	Associate	31672162
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	32168371
Cytochrome c Oxidase Deficiency	Associate	21906962
Deafness Autosomal Dominant 1	Associate	37955180
Death	Associate	24372310, 29601086, 35715422, 36938796
Death Sudden	Associate	26716362, 32449611, 36750385
Developmental Disabilities	Associate	31056551, 31445158, 33460646, 37467773, 37583270, 40085430, 40120363
Diastrophic dysplasia	Associate	32005694
Disease	Associate	19464195
Disease Resistance	Associate	29353705
Distal myopathy Nonaka type	Associate	32544858
Down Syndrome	Associate	37583270
Drug Resistant Epilepsy	Associate	15028761, 19464195, 19694741, 28525652, 29353705, 30185235, 35136380, 36056404, 38232648, 39383605
Dysgammaglobulinemia	Associate	25669891
Dyspnea	Associate	36229510
Dystonic Disorders	Associate	12900796
Early Onset Glaucoma	Associate	40180227
Encephalitis	Associate	18031552
Eosinophilic Esophagitis	Associate	27236449
Epilepsies Myoclonic	Associate	11359211, 12027919, 12773292, 14672992, 14738421, 15028761, 15263074, 15944908, 16210358, 16380441, 17054684, 17054685, 17054696, 17054697, 17065438 View all (149 more)
Epilepsies Partial	Associate	18413471, 20550552, 32538476, 37390664
Epilepsy	Associate	11118488, 11254445, 12086636, 14672992, 14738422, 15041696, 15263074, 15805193, 16210358, 16380441, 17065438, 18242854, 18294202, 18413471, 19464195 View all (91 more)
Epilepsy	Inhibit	39781574
Epilepsy Absence	Associate	27113213, 28518218
Epilepsy Benign Neonatal	Associate	21204806, 23163885
Epilepsy Generalized	Associate	11254445, 12773292, 19292758, 19400878, 24417206
Epilepsy Idiopathic Generalized	Associate	14738422, 15944908, 24842605, 25268096, 36374051
Epilepsy Intractable Childhood With Generalized Tonic Clonic Seizures	Associate	16210358
Epilepsy Partial Motor	Associate	32853554
Epilepsy Temporal Lobe	Associate	17565594, 33370868, 40634438
Epilepsy Tonic Clonic	Associate	36229510
Epileptic Encephalopathy Early Infantile 3	Associate	28794249, 30526861, 30735520, 31176277, 32853554, 34181986, 35696452, 36361691, 36571524, 36750385, 36868483, 37467773, 37482918, 37867425, 39915231
Epileptic Encephalopathy Early Infantile 3	Stimulate	36084525
Epileptic Syndromes	Associate	12086630, 14672992, 15694566, 17065438, 17928445, 18021921, 18031552, 21775168, 22151702, 24417206, 26990884, 28664031, 30735520, 32032478, 32193085 View all (4 more)
Eyelid Diseases	Associate	34521063
Facial Paralysis	Associate	37510386
Febrile Convulsions Familial 2	Associate	22151702
Fever	Associate	21204810, 22000312, 24277604, 30737342, 31714027, 34226156, 35022648
Focal Cortical Dysplasia	Associate	24902755
Focal cortical dysplasia of Taylor	Associate	24902755
Frasier Syndrome	Associate	12027919, 14738422, 20550552
Gait Ataxia	Associate	22780858
Generalized Epilepsy With Febrile Seizures Plus Type 1	Associate	10486327, 11254444, 11359211, 14672992, 14738422, 15694566, 15827091, 15944908, 16359470, 16380441, 17065438, 17561957, 17565594, 18031552, 19292758 View all (24 more)
Generalized Epilepsy With Febrile Seizures Plus Type 2	Associate	11254445, 16210358
Genetic Diseases Inborn	Associate	18479393, 37955180, 39202364
Glaucoma Open Angle	Associate	34348663
Hand Injuries	Associate	24776920
Headache Disorders Primary	Associate	21713554
Heart Diseases	Associate	24427266, 32761786, 33712547
Hemiplegia	Associate	19563349, 40003892
Hippocampal Sclerosis	Associate	29601086, 32761786
Hyperkinesis	Associate	24776920, 28794249
Immune System Diseases	Associate	33726816
Infantile Epileptic Dyskinetic Encephalopathy	Associate	28387369, 37467773, 37593999
Intellectual Disability	Associate	20384724, 24328833, 27113213, 33278787, 35696452
Language Development Disorders	Associate	19214208, 34979672
Language Disorders	Associate	28148630
Lennox Gastaut Syndrome	Associate	33912281
Leukoencephalopathies	Associate	21426328
Lymphocytosis	Associate	25669891
Macular dystrophy corneal type 1	Associate	24902755
Malformations of Cortical Development	Associate	24902755
Melkersson Rosenthal Syndrome	Associate	37510386
Mental Disorders	Associate	22309220
Migraine Disorders	Associate	18021921, 26747084, 37510386, 39781574
Migraine Familial Basilar	Associate	33460646
Migraine Familial Hemiplegic 3	Associate	18021921, 18621678, 26747084, 31730442, 35696452, 39781574
Migraine with Aura	Associate	17119788, 18021921, 18056581, 18621678, 22784462, 26747084, 26763045, 28593511, 31586957, 31730442, 31980564, 33126486, 34320921, 37510386, 40003892
Mitochondrial Complex III Deficiency	Associate	21906962
Mitochondrial Diseases	Associate	21906962
Motor Disorders	Associate	32928894
Movement Disorders	Associate	24776920, 28794249, 34521063, 35696452, 37583270
Myoclonic Epilepsy Juvenile	Associate	24842605
Myoclonus	Associate	18021921, 22000312
Neoplastic Syndromes Hereditary	Associate	17065438
Nerve Degeneration	Associate	18021921, 18031552
Neurodegenerative Diseases	Associate	28837158, 36938796
Neurologic Manifestations	Associate	23586701
Neutropenia	Associate	25669891
Obesity	Associate	31662442
Pain	Associate	24275226, 28621020, 32532910
Paralyses Familial Periodic	Associate	11118488
Paralysis Hyperkalemic Periodic	Associate	14672992, 16210358
Pathological Conditions Anatomical	Associate	33108073
Periventricular Nodular Heterotopia	Associate	24902755
Platelet Signal Processing Defect	Associate	21426328
Poisoning	Inhibit	30526861
Psychomotor Agitation	Associate	36868483
Psychomotor Disorders	Associate	33108073
Psychotic Disorders	Associate	39950246
Rett Syndrome	Associate	30305042
Seizures	Associate	12086630, 17884755, 18021921, 18031552, 19214208, 20447868, 20550552, 21204810, 21555645, 21753172, 21865128, 21906962, 22092154, 22309220, 22591328 View all (30 more)
Seizures Febrile	Associate	11254445, 12086636, 12773292, 15263074, 16326807, 17054684, 17565594, 19054398, 19292758, 20477842, 20550552, 20630778, 21204810, 21753172, 21762453 View all (19 more)
Sepsis	Associate	21426328
Signs and Symptoms	Associate	24275226
Signs and Symptoms Digestive	Associate	34181986, 37523795
Sleep Wake Disorders	Associate	28732259
Slow Virus Diseases	Associate	24328833
Spasm	Associate	37583270
Spasms Infantile	Associate	23586701, 25268096, 37583270
Status Epilepticus	Associate	21426328, 22780858, 23586701, 24225340, 32193085, 32773773, 33278787, 34226156, 36229510, 36750385, 39915231
Stevens Johnson Syndrome	Associate	18489610
Substance Related Disorders	Associate	38061235
Sudden Infant Death	Associate	29601086
Sudden Unexpected Death in Epilepsy	Associate	20738378, 24372310, 24902755, 28333919, 30146492
Syndactyly type v	Associate	23945787
Syndrome	Associate	23586701, 24328833
Thrombocytopenia	Associate	39202364
Vaginal Discharge	Associate	24328833
Voice Disorders	Associate	19214208
Vomiting	Associate	36229510
West Nile Fever	Associate	21881118
Wolf Hirschhorn Syndrome	Associate	28102593

SCN1A (sodium voltage-gated channel alpha subunit 1)