NPC1 (NPC intracellular cholesterol transporter 1)

Gene

• Entrez ID: 4864
• Gene name: NPC intracellular cholesterol transporter 1
• Gene symbol: NPC1
• Synonyms: NPC, POGZ, SLC65A1
• Chromosome: 18
• Chromosome location: 18q11.2
• Summary: This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1621962	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs7227375	G>A,C	Likely-benign, benign, likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs28940897	T>G	Pathogenic	Coding sequence variant, missense variant
rs28942104	G>A	Pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs28942105	T>A,C	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs28942106	T>C	Pathogenic	Coding sequence variant, missense variant
rs28942107	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs28942108	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs34084984	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs34226296	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, missense variant
rs55680026	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs55724504	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, synonymous variant
rs77289650	C>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs80358252	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs80358253	T>G	Pathogenic	Coding sequence variant, missense variant
rs80358254	C>A,G,T	Pathogenic, uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs80358257	G>C	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs80358258	C>T	Pathogenic	Coding sequence variant, missense variant
rs80358259	A>G	Pathogenic	Coding sequence variant, missense variant
rs113371321	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs120074130	C>T	Pathogenic	Missense variant, coding sequence variant
rs120074131	C>G,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs120074132	C>T	Pathogenic	Missense variant, coding sequence variant
rs120074134	A>G	Pathogenic	Missense variant, coding sequence variant
rs120074135	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs120074136	A>G	Pathogenic	Missense variant, coding sequence variant
rs138184115	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs139751448	C>T	Pathogenic	Missense variant, coding sequence variant
rs141440861	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143124972	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs145101354	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs145145840	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs145227129	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs145362908	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147795644	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs150334966	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150602021	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs151125564	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Synonymous variant, coding sequence variant
rs182413311	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs200444084	C>T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs369098773	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs369368181	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs371076898	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs371160947	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs372030650	T>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs372445155	G>A	Pathogenic	Missense variant, coding sequence variant
rs372947142	G>A	Pathogenic-likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs375307057	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376213990	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs377130051	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs377515417	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs398123284	->A	Pathogenic	Frameshift variant, coding sequence variant
rs483352879	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs483352880	->G	Pathogenic	Frameshift variant, coding sequence variant
rs483352881	->C	Pathogenic	Frameshift variant, coding sequence variant
rs483352882	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs483352883	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs483352884	->T	Pathogenic	Coding sequence variant, stop gained
rs483352885	T>A	Pathogenic	Missense variant, coding sequence variant
rs483352886	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs483352887	T>C	Pathogenic	Missense variant, coding sequence variant
rs483352888	A>G	Pathogenic	Missense variant, coding sequence variant
rs483352889	G>A	Pathogenic	Coding sequence variant, stop gained
rs483352890	C>G	Pathogenic	Missense variant, coding sequence variant
rs483352891	C>T	Pathogenic	Missense variant, coding sequence variant
rs483352892	G>C	Pathogenic	Intron variant
rs543206298	G>A	Pathogenic	Missense variant, coding sequence variant
rs550562774	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs746715353	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs748837410	C>T	Pathogenic	Coding sequence variant, missense variant
rs748862167	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs749012588	CT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs750095738	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs750292546	G>A,C,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs750323164	->AAGT	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs751249367	A>C,G	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs751951695	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs752409181	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs753419933	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs753768576	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs756815030	CT>-	Pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs756853895	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, splice acceptor variant
rs757475924	C>A	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs758231839	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs758687942	ACAGAC>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, inframe deletion
rs758829443	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs758902805	G>C,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs759075595	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs759826138	G>A	Pathogenic	Stop gained, coding sequence variant
rs761910746	->AA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs762124334	A>-,AA	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs764472245	A>C,T	Likely-pathogenic	Splice donor variant
rs764548800	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs765729815	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs768299417	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs768999208	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs770321568	C>G	Uncertain-significance, likely-pathogenic	Intron variant
rs770580241	TTTC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs771806960	C>A,T	Likely-pathogenic	Splice acceptor variant
rs772150994	->ACC,CAACC,CACC,CCACC,CCCGCC,CCGCC,CCTCC,CGCC,CTCC	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs772565983	C>T	Uncertain-significance, pathogenic	Synonymous variant, coding sequence variant
rs772898831	A>G	Likely-pathogenic	Splice donor variant
rs773941375	->TC	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs774333145	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs774943545	GAGT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs775629081	G>A	Pathogenic	Stop gained, coding sequence variant
rs775915490	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs777286835	G>A,T	Likely-pathogenic, pathogenic	Missense variant, stop gained, coding sequence variant
rs777356809	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs778096289	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs778878523	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs780592540	G>A,C	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs781261962	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs786200877	C>T	Likely-pathogenic	Splice donor variant
rs786200878	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs786200879	AAGT>-,AAGTAAGT	Pathogenic	Frameshift variant, coding sequence variant
rs786204455	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs786204512	G>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs786204586	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs786204641	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs786204714	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794727897	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs863224902	->AATA	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs876661319	T>C	Pathogenic	Coding sequence variant, missense variant
rs886041356	->T	Pathogenic	Coding sequence variant, frameshift variant
rs886042268	T>C	Pathogenic	Splice acceptor variant
rs886042270	C>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs886043131	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886043744	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886043871	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886044570	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs886044580	->TC	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs917070773	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs1055204017	C>G,T	Pathogenic-likely-pathogenic	Intron variant
rs1057516260	G>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516462	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516603	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516647	TCCAAAC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516749	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516813	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1057516950	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517005	T>C	Likely-pathogenic	Missense variant, initiator codon variant
rs1057517077	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057517149	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517186	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517194	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517197	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517455	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517978	A>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057518613	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518711	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057518942	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519229	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs1057519242	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793791	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs1064794009	AG>-	Likely-pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1064795718	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1131691558	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1160114136	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1169032037	G>A	Pathogenic	Missense variant, coding sequence variant
rs1243863645	TGA>-	Uncertain-significance, likely-pathogenic	Coding sequence variant, inframe deletion
rs1261939149	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1298238512	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1338658857	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1555631571	C>A,G,T	Likely-pathogenic	Splice donor variant
rs1555631610	GAATATC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555631642	TA>C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555631653	C>G	Likely-pathogenic	Splice acceptor variant
rs1555631888	A>G	Likely-pathogenic	Splice donor variant
rs1555631957	TCAT>AAA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555631982	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555631998	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555632182	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555632971	CC>AT	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1555632977	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555632994	T>G	Likely-pathogenic	Splice acceptor variant
rs1555633118	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1555633309	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555633326	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555633361	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1555633454	C>T	Pathogenic, likely-pathogenic	Splice donor variant
rs1555633637	AACA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555634236	CTT>-	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1555634422	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555634508	C>T	Likely-pathogenic	Splice acceptor variant
rs1555634513	T>A	Likely-pathogenic	Splice acceptor variant
rs1555634618	->CCCCCG,CCCCG,CCCCT,CCCG,CCG,CG,CGCCG,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs1555634690	C>T	Likely-pathogenic	Splice donor variant
rs1555635957	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555636659	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs1555637139	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555637164	CTGCTGGGGGCTGACCAGAGGTCAACTGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555637232	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1555637255	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555638409	C>A	Pathogenic	Splice donor variant
rs1555638833	A>G	Likely-pathogenic	Splice donor variant
rs1555641027	->GTAACTCTTTCACATTTGTTTT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555641037	->TC	Pathogenic	Frameshift variant, coding sequence variant
rs1555642296	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555642347	T>A	Likely-pathogenic	Splice acceptor variant
rs1555645630	C>T	Likely-pathogenic	Initiator codon variant, missense variant
rs1567965488	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598942578	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1598954455	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599011473	ACCTCTTGT>-	Likely-pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004540	hsa-miR-33a-5p	Luciferase reporter assay	20466885
MIRT004540	hsa-miR-33a-5p	Luciferase reporter assay	20466885
MIRT004540	hsa-miR-33a-5p	Immunofluorescence, Luciferase reporter assay, Western blot	23547260
MIRT018683	hsa-miR-335-5p	Microarray	18185580
MIRT052499	hsa-let-7a-5p	CLASH	23622248
MIRT1190511	hsa-miR-1200	CLIP-seq
MIRT1190512	hsa-miR-200b	CLIP-seq
MIRT1190513	hsa-miR-200c	CLIP-seq
MIRT1190514	hsa-miR-2115	CLIP-seq
MIRT1190515	hsa-miR-27a	CLIP-seq
MIRT1190516	hsa-miR-27b	CLIP-seq
MIRT1190517	hsa-miR-3691-3p	CLIP-seq
MIRT1190518	hsa-miR-429	CLIP-seq
MIRT1190519	hsa-miR-4324	CLIP-seq
MIRT1190520	hsa-miR-4682	CLIP-seq
MIRT1190521	hsa-miR-513a-5p	CLIP-seq
MIRT1190522	hsa-miR-516a-3p	CLIP-seq
MIRT1190523	hsa-miR-544b	CLIP-seq
MIRT1190511	hsa-miR-1200	CLIP-seq
MIRT2055141	hsa-miR-1914	CLIP-seq
MIRT1190515	hsa-miR-27a	CLIP-seq
MIRT1190516	hsa-miR-27b	CLIP-seq
MIRT2055142	hsa-miR-3192	CLIP-seq
MIRT2055143	hsa-miR-3591-5p	CLIP-seq
MIRT2055144	hsa-miR-4327	CLIP-seq
MIRT2055145	hsa-miR-4434	CLIP-seq
MIRT2055146	hsa-miR-4505	CLIP-seq
MIRT2055147	hsa-miR-4516	CLIP-seq
MIRT2055148	hsa-miR-4709-3p	CLIP-seq
MIRT2055149	hsa-miR-485-5p	CLIP-seq
MIRT1190521	hsa-miR-513a-5p	CLIP-seq
MIRT2055150	hsa-miR-597	CLIP-seq
MIRT2284114	hsa-miR-4797-5p	CLIP-seq
MIRT2284115	hsa-miR-509-3p	CLIP-seq
MIRT2391687	hsa-miR-4265	CLIP-seq
MIRT2391688	hsa-miR-4296	CLIP-seq
MIRT2391689	hsa-miR-4322	CLIP-seq
MIRT2391690	hsa-miR-4648	CLIP-seq
MIRT2391691	hsa-miR-4654	CLIP-seq
MIRT2391692	hsa-miR-4769-5p	CLIP-seq
MIRT2391693	hsa-miR-548c-3p	CLIP-seq
MIRT2391694	hsa-miR-668	CLIP-seq
MIRT2439052	hsa-miR-148a	CLIP-seq
MIRT2439053	hsa-miR-148b	CLIP-seq
MIRT2439054	hsa-miR-152	CLIP-seq
MIRT2439055	hsa-miR-33a	CLIP-seq
MIRT2439056	hsa-miR-33b	CLIP-seq
MIRT2284114	hsa-miR-4797-5p	CLIP-seq
MIRT2284115	hsa-miR-509-3p	CLIP-seq
MIRT2439052	hsa-miR-148a	CLIP-seq
MIRT2439053	hsa-miR-148b	CLIP-seq
MIRT2439054	hsa-miR-152	CLIP-seq
MIRT2439055	hsa-miR-33a	CLIP-seq
MIRT2439056	hsa-miR-33b	CLIP-seq
MIRT2391687	hsa-miR-4265	CLIP-seq
MIRT2391688	hsa-miR-4296	CLIP-seq
MIRT2391689	hsa-miR-4322	CLIP-seq
MIRT2284115	hsa-miR-509-3p	CLIP-seq
MIRT2391693	hsa-miR-548c-3p	CLIP-seq
MIRT2686448	hsa-miR-103a	CLIP-seq
MIRT2686449	hsa-miR-107	CLIP-seq
MIRT2686450	hsa-miR-3065-3p	CLIP-seq
MIRT2686451	hsa-miR-767-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001618	Function	Virus receptor activity	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	TAS	10521290
GO:0005515	Function	Protein binding	IPI	16757520, 19583955, 20674861, 25285302, 26771495, 27238017
GO:0005576	Component	Extracellular region	ISS
GO:0005635	Component	Nuclear envelope	IDA	12554680
GO:0005764	Component	Lysosome	ISS
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA	12554680
GO:0005794	Component	Golgi apparatus	IEA
GO:0005887	Component	Integral component of plasma membrane	IDA	10821832
GO:0006486	Process	Protein glycosylation	IDA	10821832
GO:0006897	Process	Endocytosis	IEA
GO:0006914	Process	Autophagy	IGI	19074461
GO:0007041	Process	Lysosomal transport	ISS
GO:0007628	Process	Adult walking behavior	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008206	Process	Bile acid metabolic process	ISS
GO:0015248	Function	Sterol transporter activity	TAS	9927649
GO:0015485	Function	Cholesterol binding	IDA	18772377
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	TAS	10521290
GO:0016242	Process	Negative regulation of macroautophagy	IEA
GO:0030301	Process	Cholesterol transport	IDA	18772377
GO:0031579	Process	Membrane raft organization	IMP	23360953
GO:0031902	Component	Late endosome membrane	IEA
GO:0032367	Process	Intracellular cholesterol transport	IMP	9211849, 27238017, 28784760
GO:0033344	Process	Cholesterol efflux	IDA	16141411
GO:0034383	Process	Low-density lipoprotein particle clearance	TAS
GO:0038023	Function	Signaling receptor activity	TAS	9211849
GO:0042493	Process	Response to drug	IEA
GO:0042632	Process	Cholesterol homeostasis	IDA	12719428
GO:0042632	Process	Cholesterol homeostasis	IMP	9211849, 9927649, 28784760
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0045121	Component	Membrane raft	IEA
GO:0046686	Process	Response to cadmium ion	IEA
GO:0046718	Process	Viral entry into host cell	IMP	21866101, 21866103
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	12554680
GO:0060548	Process	Negative regulation of cell death	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071383	Process	Cellular response to steroid hormone stimulus	IEA
GO:0071404	Process	Cellular response to low-density lipoprotein particle stimulus	IEA
GO:0090150	Process	Establishment of protein localization to membrane	IDA	23360953
GO:1905103	Component	Integral component of lysosomal membrane	IDA	9927649, 28784760

Other IDs

• MIM: 607623
• HGNC: 7897
• e!Ensembl: ENSG00000141458

Protein

• UniProt ID: O15118
• Protein name: NPC intracellular cholesterol transporter 1 (Niemann-Pick C1 protein)
• Protein function: Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment (PubMed:10821832, PubMed:12554680, PubMed:18772377, PubMed:27238017, PubMed:9
• PDB: 3GKH, 3GKI, 3GKJ, 3JD8, 5F18, 5F1B, 5HNS, 5JNX, 5KWY, 5U73, 5U74, 6UOX, 6W5R, 6W5S, 6W5T, 6W5U, 6W5V, 8EUS, 9DZ2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16414	NPC1_N	22 → 267	Niemann-Pick C1 N terminus	Domain
  PF12349	Sterol-sensing	649 → 803	Sterol-sensing domain of SREBP cleavage-activation	Family
  PF02460	Patched	1027 → 1253	Patched family	Family

• Sequence:

  MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQ
  ELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFYNLLNLFCELTCSPRQSQF
  LNVTATEDYVDPVTNQTKTNVKELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKD
  ADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSC
  QDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFLLVFFGAFFAVWCYRKRYFVS
  EYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNPGCVIFFSLVF
  ITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIY
  QPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYNTNCT
  ILSVLNYFQNSHSVLDHKKGDDFFVYADYHTHFLYCVRAPASLNDTSLLHDPCLGTFGGP
  VFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLT
  ISFTAERSIEDELNRESDSDVFTVVISYAIMFLYISLALGHMKSCRRLLVDSKVSLGIAG
  ILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETL
  DQQLGRVLGEVAPSMFLSSFSETVAFFLGALSVMPAVHTFSLFAGLAVFIDFLLQITCFV
  SLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIA
  IFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYT
  SSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVD
  NITDQFCNASVVDPACVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYS
  SAVNILLGHGTRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFP
  YSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFG
  VMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFS
  GITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKS
  CATEERYKGTERERLLNF

• Sequence length: 1278

Pathways

KEGG:

Virion - Ebolavirus, Lyssavirus and Morbillivirus
Lysosome
Cholesterol metabolism

Reactome:

LDL clearance

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Apraxia	Apraxia of Phonation	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29212778
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
External ophthalmoplegia	External Ophthalmoplegia	rs1569484022	21273508
Gastrointestinal stromal tumor	Gastrointestinal Stromal Tumors, Gastrointestinal Stromal Sarcoma	rs587776653, rs74315368, rs74315369, rs587776793, rs587776794, rs587776795, rs606231209, rs121908589, rs121913685, rs121913680, rs794726675, rs587776804, rs121913517, rs121913234, rs121913512, rs267607032, rs387906780, rs201286421, rs587778661, rs587781270, rs587782243, rs74315370, rs587782703, rs786203457, rs764575966, rs786203251, rs587782604, rs200245469, rs397516836, rs786202732, rs786201161, rs786201063, rs751000085, rs869025568, rs876660642, rs876658713, rs151170408, rs878854632, rs752360961, rs121913235, rs121913521, rs121913513, rs1057519708, rs1057519710, rs121913514, rs1057519713, rs778582853, rs1060503757, rs1060502521, rs1060502543, rs898854295, rs981049067, rs916516745, rs1553887262, rs1057520032, rs1553887960, rs775143272, rs1560395607, rs1560418178, rs751904543, rs1560420761, rs1560417385, rs1560417396, rs1560417427, rs1560417438, rs1560417535, rs1560417642, rs1560417666, rs1560417673, rs1577992594, rs1577995761, rs1578003055, rs1301704156, rs1734957331	27793025
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Niemann-pick disease	Niemann-Pick Disease, Type C, Niemann-Pick disease type C, severe perinatal form, Niemann-Pick disease type C, late infantile neurologic onset, Niemann-Pick disease type C, severe early infantile neurologic onset, Niemann-Pick disease type C, adult neurologic onset, Niemann-Pick disease type C, juvenile neurologic onset	rs28942105, rs120074130, rs797044431, rs28942106, rs120074131, rs80358257, rs80358259, rs80358254, rs120074134, rs786200877, rs28942108, rs786200878, rs120074136, rs786200879, rs120074117, rs120074119, rs267607073, rs120074120, rs120074121, rs120074123, rs120074124, rs387906289, rs120074125, rs120074126, rs120074127, rs120074128, rs267607075, rs267607074, rs80358260, rs80358268, rs80358266, rs11694, rs104894457, rs104894458, rs80358253, rs80358258, rs80358262, rs80358263, rs80358267, rs80358264, rs80358265, rs398123474, rs398123476, rs182812968, rs398123478, rs398123479, rs281860677, rs587779408, rs483352886, rs483352888, rs483352893, rs727504166, rs727504165, rs727504167, rs543206298, rs369368181, rs786204506, rs786204733, rs786204694, rs786204514, rs753508874, rs370129081, rs758902805, rs200444084, rs786204455, rs143124972, rs786204512, rs139751448, rs372030650, rs794727252, rs120074118, rs769904764, rs797044797, rs747143343, rs875989833, rs875989835, rs875989832, rs875989837, rs875989834, rs771336819, rs879253740, rs377130051, rs770321568, rs886043098, rs759826138, rs1057516949, rs1057516722, rs1057517098, rs1057516931, rs868423827, rs1057517086, rs1057517195, rs748165078, rs989639224, rs120074122, rs750779804, rs1057517345, rs1057516432, rs1057516454, rs1057517390, rs1057516854, rs1057517200, rs943924098, rs373940701, rs1057516403, rs369098773, rs376213990, rs1057517455, rs762124334, rs1057516462, rs759075595, rs1057517826, rs757475924, rs1057517978, rs1554935254, rs750323164, rs886044580, rs1554935136, rs774943545, rs780592540, rs1342372980, rs756366019, rs773941375, rs1554934193, rs1428599096, rs1225462507, rs1554934212, rs1554934309, rs764317969, rs1554935555, rs1554935600, rs1554935610, rs281860663, rs1428487333, rs1554933746, rs750157176, rs1422720020, rs1554935273, rs1554935669, rs751269562, rs757934797, rs1554935439, rs756031857, rs1554935746, rs1205990349, rs1554933751, rs1554933780, rs1554934210, rs1423504237, rs1554934406, rs1554935285, rs1437508852, rs1555345616, rs1555346368, rs777654308, rs1555345873, rs1555346369, rs753419933, rs746715353, rs1555632003, rs753768576, rs202140203, rs749012588, rs1261939149, rs1555635957, rs377515417, rs794727629, rs745777805, rs765729815, rs770962157, rs1564923612, rs759389193, rs201550531, rs281860665, rs767899043, rs768299417, rs750292546, rs1590735238, rs1590735307, rs781535659, rs1590739350, rs1018556947, rs752148586, rs1470998208, rs755160837, rs779528546, rs748411156, rs1848015403, rs1319643225, rs2086689501	19252935, 17003072, 11333381, 23773996, 11349231, 12955717, 19223215, 22216111, 10521297, 19744920, 23433426, 23430855, 26981555, 18216017, 16126423, 22676771, 11545687, 11182931, 23597521, 24570279, 26830282, 22476655, 9802331, 25236789, 11754101, 10521290, 23821321, 10480349, 9211849
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840	19151714
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	31374203
Sphingomyelinase deficiency	Niemann-Pick Disease, Type D, Niemann-Pick Disease, Type C1	rs28940897, rs28942105, rs797044431, rs28942106, rs80358257, rs80358259, rs80358254, rs120074134, rs120074135, rs28942107, rs786200877, rs80358252, rs28942108, rs786200878, rs120074136, rs786200879, rs387906289, rs104894458, rs80358253, rs80358258, rs398123284, rs483352883, rs483352885, rs483352886, rs483352879, rs483352887, rs483352888, rs483352889, rs483352890, rs483352882, rs483352881, rs483352884, rs483352880, rs543206298, rs730880963, rs369368181, rs758902805, rs200444084, rs786204455, rs786204586, rs143124972, rs786204714, rs786204641, rs786204512, rs764472245, rs139751448, rs372030650, rs794727897, rs863224902, rs777286835, rs876661319, rs377130051, rs768999208, rs751951695, rs886041356, rs886042268, rs886042270, rs770321568, rs759826138, rs750095738, rs369098773, rs1057516647, rs1057517149, rs1057517194, rs781261962, rs1057516603, rs550562774, rs376213990, rs1057517197, rs1057517455, rs1057517077, rs1057516813, rs1057516950, rs756853895, rs762124334, rs1057516260, rs752409181, rs1057516749, rs1057517186, rs1057516462, rs759075595, rs1057517005, rs778878523, rs1057518613, rs757475924, rs1057517978, rs113371321, rs372445155, rs1057518711, rs917070773, rs1064794009, rs750323164, rs886044580, rs1064795718, rs1555638409, rs1555637255, rs1555631982, rs1555632994, rs774943545, rs780592540, rs775629081, rs1298238512, rs1555633454, rs1555631998, rs773941375, rs1555637139, rs1428599096, rs1555637232, rs1555632971, rs1555633361, rs753419933, rs1555631653, rs1555631888, rs1555631957, rs746715353, rs775915490, rs1555633309, rs1555631571, rs758231839, rs1555634513, rs1555634690, rs1555632003, rs1555632977, rs753768576, rs1555634236, rs202140203, rs1555637164, rs749012588, rs1555641027, rs770580241, rs1555645630, rs1555633118, rs1555633326, rs1555634422, rs1055204017, rs1555642347, rs1555631610, rs1555631642, rs1555632182, rs771806960, rs761910746, rs1261939149, rs1555634508, rs1555635957, rs377515417, rs1555638833, rs1555642296, rs751249367, rs745777805, rs1567977251, rs765729815, rs1567965488, rs756366019, rs1598954455, rs772898831, rs768299417, rs750292546, rs1169032037, rs1160114136, rs1599011473, rs1598942578, rs755160837, rs2058596611, rs2058574038, rs2058616798, rs2058768195, rs2058769608, rs2058949697, rs2059233403, rs2058678962, rs2059231880, rs144973225	9802331, 22216111, 26108224, 27139891, 26984608, 24915861, 22704015, 11479732, 22505584, 12401890, 28222799, 23146215, 24135395, 28130309, 11182931, 11545687, 10480349, 23142039, 9211850, 19744920, 21245028, 23433426, 28480683, 22216111, 23791518, 16126423, 25131710, 9211849, 25239094, 26939636, 27238017, 25349751, 16098014, 11349231, 24001525, 16138904, 17160617, 25236789, 20718790, 20525256, 10521297, 14639697, 19609713, 22676771, 11333381, 17003072, 22750297, 22065762, 25425405, 23427322, 10521290, 19307542, 23593294, 28193631, 15130691, 27378690, 26666848, 26338816, 23183285, 23597521, 24386122, 27928380, 15465421, 25637190, 28155026, 26981555, 19718781, 27366019, 11754101, 16802107, 24676439, 3378364, 17989072, 12408188, 24506780, 16778374, 15774455, 25326637, 25764212, 12955717, 15937921, 23453666, 15347664, 22326530, 27581084, 27549128, 23773996, 12205649, 30119649, 23653225, 19900398, 19013089, 26206375, 18216017, 12974729, 25149939, 26937389, 19223215, 27193329, 27959697, 28167839, 9634529, 12719428, 24035292, 19206179, 12554680, 9802331, 27706244, 23430855, 28802248, 9245994, 16086131, 24767253, 23774949, 19252935, 9927649, 27256227, 26019327, 15459971, 29197565, 27604308, 29100954, 20826119, 27900365, 24570279, 22476655, 20521171

Unknown
Disease name	Disease term	dbSNP ID	References
Atherosclerosis	Atherosclerosis	rs699947, rs59439148	18483620
Cardiovascular diseases	Cardiovascular Diseases		30595370
Cataplexy	Cataplexy
Dementia	Dementia
Dysarthria	Dysarthria		21273508
Dysphagia	Deglutition Disorders
Fetal ascites	Fetal ascites
Impaired cognition	Impaired cognition
Liver cirrhosis	Liver Cirrhosis		22216111
Liver fibrosis	Fibrosis, Liver		22216111
Movement disorders	Movement Disorders		22572546, 12974729, 19744920, 9425535, 10521297, 20525256, 15459971
Psychosis	Psychotic Disorders
Rubral tremor	Tremor, Rubral		21273508
Sea-blue histiocytosis	Sea-Blue Histiocyte Syndrome
Supranuclear gaze palsy	Vertical supranuclear gaze palsy