RNASEH1 (ribonuclease H1)

Gene

• Entrez ID: 246243
• Gene name: Ribonuclease H1
• Gene symbol: RNASEH1
• Synonyms: H1RNA, PEOB2, RNH1
• Chromosome: 2
• Chromosome location: 2p25.3
• Summary: This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and plays a key role in DNA replication and repair. Alternate in-frame start codon initiation results in the production of alternate isoforms that are directed to the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs373442996	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs766294940	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057517675	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1229409884	->C	Likely-pathogenic	5 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029640	hsa-miR-26b-5p	Microarray	19088304
MIRT045143	hsa-miR-186-5p	CLASH	23622248
MIRT043509	hsa-miR-331-3p	CLASH	23622248
MIRT042080	hsa-miR-484	CLASH	23622248
MIRT534639	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT534638	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT534637	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT534636	hsa-miR-3609	PAR-CLIP	21572407
MIRT534635	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT534634	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT534633	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT534632	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT534631	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT534630	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT534629	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT534628	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT534627	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT534626	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT534625	hsa-miR-302a-3p	PAR-CLIP	21572407
MIRT534624	hsa-miR-302b-3p	PAR-CLIP	21572407
MIRT534610	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT534623	hsa-miR-302d-3p	PAR-CLIP	21572407
MIRT534622	hsa-miR-302e	PAR-CLIP	21572407
MIRT534621	hsa-miR-372-3p	PAR-CLIP	21572407
MIRT534620	hsa-miR-373-3p	PAR-CLIP	21572407
MIRT534619	hsa-miR-520a-3p	PAR-CLIP	21572407
MIRT534618	hsa-miR-520b	PAR-CLIP	21572407
MIRT534617	hsa-miR-520c-3p	PAR-CLIP	21572407
MIRT534616	hsa-miR-520d-3p	PAR-CLIP	21572407
MIRT534615	hsa-miR-520e	PAR-CLIP	21572407
MIRT534614	hsa-miR-580-5p	PAR-CLIP	21572407
MIRT534613	hsa-miR-193a-3p	PAR-CLIP	21572407
MIRT534612	hsa-miR-193b-3p	PAR-CLIP	21572407
MIRT534611	hsa-miR-892b	PAR-CLIP	21572407
MIRT534610	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT534609	hsa-miR-520f-3p	PAR-CLIP	21572407
MIRT534608	hsa-miR-4722-3p	PAR-CLIP	21572407
MIRT534607	hsa-miR-6727-3p	PAR-CLIP	21572407
MIRT534606	hsa-miR-6747-3p	PAR-CLIP	21572407
MIRT554665	hsa-miR-6868-5p	PAR-CLIP	21572407
MIRT534605	hsa-miR-4480	PAR-CLIP	21572407
MIRT534639	hsa-miR-5590-3p	PAR-CLIP	22012620
MIRT534638	hsa-miR-142-5p	PAR-CLIP	22012620
MIRT534637	hsa-miR-340-5p	PAR-CLIP	22012620
MIRT534636	hsa-miR-3609	PAR-CLIP	22012620
MIRT534635	hsa-miR-548ah-5p	PAR-CLIP	22012620
MIRT534634	hsa-miR-106a-5p	PAR-CLIP	22012620
MIRT534633	hsa-miR-106b-5p	PAR-CLIP	22012620
MIRT534632	hsa-miR-17-5p	PAR-CLIP	22012620
MIRT534631	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT534630	hsa-miR-20b-5p	PAR-CLIP	22012620
MIRT534629	hsa-miR-519d-3p	PAR-CLIP	22012620
MIRT534628	hsa-miR-526b-3p	PAR-CLIP	22012620
MIRT534627	hsa-miR-93-5p	PAR-CLIP	22012620
MIRT534626	hsa-miR-4796-3p	PAR-CLIP	22012620
MIRT534625	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT534624	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT534610	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT534623	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT534622	hsa-miR-302e	PAR-CLIP	22012620
MIRT534621	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT534620	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT534619	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT534618	hsa-miR-520b	PAR-CLIP	22012620
MIRT534617	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT534616	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT534615	hsa-miR-520e	PAR-CLIP	22012620
MIRT534614	hsa-miR-580-5p	PAR-CLIP	22012620
MIRT534613	hsa-miR-193a-3p	PAR-CLIP	22012620
MIRT534612	hsa-miR-193b-3p	PAR-CLIP	22012620
MIRT534611	hsa-miR-892b	PAR-CLIP	22012620
MIRT534610	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT534609	hsa-miR-520f-3p	PAR-CLIP	22012620
MIRT534608	hsa-miR-4722-3p	PAR-CLIP	22012620
MIRT534607	hsa-miR-6727-3p	PAR-CLIP	22012620
MIRT534606	hsa-miR-6747-3p	PAR-CLIP	22012620
MIRT534605	hsa-miR-4480	PAR-CLIP	22012620
MIRT534639	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT534638	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT534637	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT534636	hsa-miR-3609	PAR-CLIP	21572407
MIRT534635	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT534634	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT534633	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT534632	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT534631	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT534630	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT534629	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT534628	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT534627	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT534626	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT534625	hsa-miR-302a-3p	PAR-CLIP	21572407
MIRT534624	hsa-miR-302b-3p	PAR-CLIP	21572407
MIRT534610	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT534623	hsa-miR-302d-3p	PAR-CLIP	21572407
MIRT534622	hsa-miR-302e	PAR-CLIP	21572407
MIRT534621	hsa-miR-372-3p	PAR-CLIP	21572407
MIRT534620	hsa-miR-373-3p	PAR-CLIP	21572407
MIRT534619	hsa-miR-520a-3p	PAR-CLIP	21572407
MIRT534618	hsa-miR-520b	PAR-CLIP	21572407
MIRT534617	hsa-miR-520c-3p	PAR-CLIP	21572407
MIRT534616	hsa-miR-520d-3p	PAR-CLIP	21572407
MIRT534615	hsa-miR-520e	PAR-CLIP	21572407
MIRT534614	hsa-miR-580-5p	PAR-CLIP	21572407
MIRT534613	hsa-miR-193a-3p	PAR-CLIP	21572407
MIRT534612	hsa-miR-193b-3p	PAR-CLIP	21572407
MIRT534611	hsa-miR-892b	PAR-CLIP	21572407
MIRT534610	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT534609	hsa-miR-520f-3p	PAR-CLIP	21572407
MIRT534608	hsa-miR-4722-3p	PAR-CLIP	21572407
MIRT534607	hsa-miR-6727-3p	PAR-CLIP	21572407
MIRT534606	hsa-miR-6747-3p	PAR-CLIP	21572407
MIRT554665	hsa-miR-6868-5p	PAR-CLIP	21572407
MIRT534605	hsa-miR-4480	PAR-CLIP	21572407
MIRT534639	hsa-miR-5590-3p	PAR-CLIP	22012620
MIRT534638	hsa-miR-142-5p	PAR-CLIP	22012620
MIRT534637	hsa-miR-340-5p	PAR-CLIP	22012620
MIRT534636	hsa-miR-3609	PAR-CLIP	22012620
MIRT534635	hsa-miR-548ah-5p	PAR-CLIP	22012620
MIRT534634	hsa-miR-106a-5p	PAR-CLIP	22012620
MIRT534633	hsa-miR-106b-5p	PAR-CLIP	22012620
MIRT534632	hsa-miR-17-5p	PAR-CLIP	22012620
MIRT534631	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT534630	hsa-miR-20b-5p	PAR-CLIP	22012620
MIRT534629	hsa-miR-519d-3p	PAR-CLIP	22012620
MIRT534628	hsa-miR-526b-3p	PAR-CLIP	22012620
MIRT534627	hsa-miR-93-5p	PAR-CLIP	22012620
MIRT534626	hsa-miR-4796-3p	PAR-CLIP	22012620
MIRT534625	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT534624	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT534610	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT534623	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT534622	hsa-miR-302e	PAR-CLIP	22012620
MIRT534621	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT534620	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT534619	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT534618	hsa-miR-520b	PAR-CLIP	22012620
MIRT534617	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT534616	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT534615	hsa-miR-520e	PAR-CLIP	22012620
MIRT534614	hsa-miR-580-5p	PAR-CLIP	22012620
MIRT534613	hsa-miR-193a-3p	PAR-CLIP	22012620
MIRT534612	hsa-miR-193b-3p	PAR-CLIP	22012620
MIRT534611	hsa-miR-892b	PAR-CLIP	22012620
MIRT534610	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT534609	hsa-miR-520f-3p	PAR-CLIP	22012620
MIRT534608	hsa-miR-4722-3p	PAR-CLIP	22012620
MIRT534607	hsa-miR-6727-3p	PAR-CLIP	22012620
MIRT534606	hsa-miR-6747-3p	PAR-CLIP	22012620
MIRT534605	hsa-miR-4480	PAR-CLIP	22012620
MIRT1308665	hsa-miR-149	CLIP-seq
MIRT1308666	hsa-miR-150	CLIP-seq
MIRT1308667	hsa-miR-15a	CLIP-seq
MIRT1308668	hsa-miR-15b	CLIP-seq
MIRT1308669	hsa-miR-16	CLIP-seq
MIRT1308670	hsa-miR-195	CLIP-seq
MIRT1308671	hsa-miR-216a	CLIP-seq
MIRT1308672	hsa-miR-24	CLIP-seq
MIRT1308673	hsa-miR-300	CLIP-seq
MIRT1308674	hsa-miR-3123	CLIP-seq
MIRT1308675	hsa-miR-3190	CLIP-seq
MIRT1308676	hsa-miR-340	CLIP-seq
MIRT1308677	hsa-miR-342-3p	CLIP-seq
MIRT1308678	hsa-miR-371-5p	CLIP-seq
MIRT1308679	hsa-miR-371b-5p	CLIP-seq
MIRT1308680	hsa-miR-381	CLIP-seq
MIRT1308681	hsa-miR-384	CLIP-seq
MIRT1308682	hsa-miR-3925-5p	CLIP-seq
MIRT1308683	hsa-miR-424	CLIP-seq
MIRT1308684	hsa-miR-4284	CLIP-seq
MIRT1308685	hsa-miR-4326	CLIP-seq
MIRT1308686	hsa-miR-4438	CLIP-seq
MIRT1308687	hsa-miR-4491	CLIP-seq
MIRT1308688	hsa-miR-4493	CLIP-seq
MIRT1308689	hsa-miR-4514	CLIP-seq
MIRT1308690	hsa-miR-451b	CLIP-seq
MIRT1308691	hsa-miR-4524	CLIP-seq
MIRT1308692	hsa-miR-4643	CLIP-seq
MIRT1308693	hsa-miR-4657	CLIP-seq
MIRT1308694	hsa-miR-4666-3p	CLIP-seq
MIRT1308695	hsa-miR-4692	CLIP-seq
MIRT1308696	hsa-miR-4696	CLIP-seq
MIRT1308697	hsa-miR-4713-5p	CLIP-seq
MIRT1308698	hsa-miR-4717-5p	CLIP-seq
MIRT1308699	hsa-miR-4722-5p	CLIP-seq
MIRT1308700	hsa-miR-4753-5p	CLIP-seq
MIRT1308701	hsa-miR-4768-3p	CLIP-seq
MIRT1308702	hsa-miR-4785	CLIP-seq
MIRT1308703	hsa-miR-4795-3p	CLIP-seq
MIRT1308704	hsa-miR-497	CLIP-seq
MIRT1308705	hsa-miR-503	CLIP-seq
MIRT1308706	hsa-miR-5095	CLIP-seq
MIRT1308707	hsa-miR-515-5p	CLIP-seq
MIRT1308708	hsa-miR-532-3p	CLIP-seq
MIRT1308709	hsa-miR-646	CLIP-seq
MIRT1308710	hsa-miR-649	CLIP-seq
MIRT1308711	hsa-miR-888	CLIP-seq
MIRT1308665	hsa-miR-149	CLIP-seq
MIRT1308666	hsa-miR-150	CLIP-seq
MIRT1308671	hsa-miR-216a	CLIP-seq
MIRT2091591	hsa-miR-224	CLIP-seq
MIRT1308672	hsa-miR-24	CLIP-seq
MIRT1308684	hsa-miR-4284	CLIP-seq
MIRT1308697	hsa-miR-4713-5p	CLIP-seq
MIRT1308708	hsa-miR-532-3p	CLIP-seq
MIRT2091591	hsa-miR-224	CLIP-seq
MIRT2316173	hsa-miR-3157-3p	CLIP-seq
MIRT1308676	hsa-miR-340	CLIP-seq
MIRT2316174	hsa-miR-3675-5p	CLIP-seq
MIRT2316175	hsa-miR-4252	CLIP-seq
MIRT2316176	hsa-miR-4269	CLIP-seq
MIRT2316177	hsa-miR-4283	CLIP-seq
MIRT1308685	hsa-miR-4326	CLIP-seq
MIRT2316178	hsa-miR-4329	CLIP-seq
MIRT1308686	hsa-miR-4438	CLIP-seq
MIRT2316179	hsa-miR-4489	CLIP-seq
MIRT1308688	hsa-miR-4493	CLIP-seq
MIRT1308689	hsa-miR-4514	CLIP-seq
MIRT1308690	hsa-miR-451b	CLIP-seq
MIRT1308692	hsa-miR-4643	CLIP-seq
MIRT2316180	hsa-miR-4656	CLIP-seq
MIRT2316181	hsa-miR-4690-5p	CLIP-seq
MIRT1308695	hsa-miR-4692	CLIP-seq
MIRT1308696	hsa-miR-4696	CLIP-seq
MIRT2316182	hsa-miR-4717-3p	CLIP-seq
MIRT1308698	hsa-miR-4717-5p	CLIP-seq
MIRT1308700	hsa-miR-4753-5p	CLIP-seq
MIRT2316183	hsa-miR-4786-5p	CLIP-seq
MIRT1308706	hsa-miR-5095	CLIP-seq
MIRT2316184	hsa-miR-769-5p	CLIP-seq
MIRT2316185	hsa-miR-874	CLIP-seq
MIRT2612240	hsa-miR-103a	CLIP-seq
MIRT2612241	hsa-miR-107	CLIP-seq
MIRT2612242	hsa-miR-1284	CLIP-seq
MIRT2612243	hsa-miR-1285	CLIP-seq
MIRT2612244	hsa-miR-1291	CLIP-seq
MIRT2612245	hsa-miR-1295	CLIP-seq
MIRT2612246	hsa-miR-129-5p	CLIP-seq
MIRT2612247	hsa-miR-184	CLIP-seq
MIRT2612248	hsa-miR-219-1-3p	CLIP-seq
MIRT2091591	hsa-miR-224	CLIP-seq
MIRT2612249	hsa-miR-3160-3p	CLIP-seq
MIRT2612250	hsa-miR-3160-5p	CLIP-seq
MIRT2612251	hsa-miR-3180-5p	CLIP-seq
MIRT2612252	hsa-miR-3187-5p	CLIP-seq
MIRT2612253	hsa-miR-3654	CLIP-seq
MIRT2612254	hsa-miR-3942-3p	CLIP-seq
MIRT2612255	hsa-miR-4292	CLIP-seq
MIRT2612256	hsa-miR-4303	CLIP-seq
MIRT2612257	hsa-miR-4310	CLIP-seq
MIRT1308685	hsa-miR-4326	CLIP-seq
MIRT2612258	hsa-miR-4487	CLIP-seq
MIRT2612259	hsa-miR-4682	CLIP-seq
MIRT2612260	hsa-miR-4694-3p	CLIP-seq
MIRT2612261	hsa-miR-4698	CLIP-seq
MIRT1308698	hsa-miR-4717-5p	CLIP-seq
MIRT2316183	hsa-miR-4786-5p	CLIP-seq
MIRT2612262	hsa-miR-4793-5p	CLIP-seq
MIRT2612263	hsa-miR-4804-5p	CLIP-seq
MIRT2612264	hsa-miR-499a-5p	CLIP-seq
MIRT2612265	hsa-miR-505	CLIP-seq
MIRT2612266	hsa-miR-520a-5p	CLIP-seq
MIRT2612267	hsa-miR-522	CLIP-seq
MIRT2612268	hsa-miR-525-5p	CLIP-seq
MIRT2612269	hsa-miR-558	CLIP-seq
MIRT2612270	hsa-miR-571	CLIP-seq
MIRT2612271	hsa-miR-612	CLIP-seq
MIRT1308710	hsa-miR-649	CLIP-seq
MIRT2612272	hsa-miR-660	CLIP-seq
MIRT2316184	hsa-miR-769-5p	CLIP-seq
MIRT2612240	hsa-miR-103a	CLIP-seq
MIRT2612241	hsa-miR-107	CLIP-seq
MIRT2612243	hsa-miR-1285	CLIP-seq
MIRT2612244	hsa-miR-1291	CLIP-seq
MIRT2612246	hsa-miR-129-5p	CLIP-seq
MIRT2612247	hsa-miR-184	CLIP-seq
MIRT2612248	hsa-miR-219-1-3p	CLIP-seq
MIRT2091591	hsa-miR-224	CLIP-seq
MIRT2612249	hsa-miR-3160-3p	CLIP-seq
MIRT2612250	hsa-miR-3160-5p	CLIP-seq
MIRT2612251	hsa-miR-3180-5p	CLIP-seq
MIRT2612252	hsa-miR-3187-5p	CLIP-seq
MIRT2612253	hsa-miR-3654	CLIP-seq
MIRT2612254	hsa-miR-3942-3p	CLIP-seq
MIRT2612255	hsa-miR-4292	CLIP-seq
MIRT2612256	hsa-miR-4303	CLIP-seq
MIRT1308685	hsa-miR-4326	CLIP-seq
MIRT2612258	hsa-miR-4487	CLIP-seq
MIRT2612259	hsa-miR-4682	CLIP-seq
MIRT2612260	hsa-miR-4694-3p	CLIP-seq
MIRT2612261	hsa-miR-4698	CLIP-seq
MIRT2316183	hsa-miR-4786-5p	CLIP-seq
MIRT2612262	hsa-miR-4793-5p	CLIP-seq
MIRT2612263	hsa-miR-4804-5p	CLIP-seq
MIRT2612264	hsa-miR-499a-5p	CLIP-seq
MIRT2612265	hsa-miR-505	CLIP-seq
MIRT2612266	hsa-miR-520a-5p	CLIP-seq
MIRT2612267	hsa-miR-522	CLIP-seq
MIRT2612268	hsa-miR-525-5p	CLIP-seq
MIRT2612269	hsa-miR-558	CLIP-seq
MIRT2612270	hsa-miR-571	CLIP-seq
MIRT2612271	hsa-miR-612	CLIP-seq
MIRT1308710	hsa-miR-649	CLIP-seq
MIRT2612272	hsa-miR-660	CLIP-seq
MIRT2316184	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IEA
GO:0003676	Function	Nucleic acid binding	TAS	9799596
GO:0003723	Function	RNA binding	TAS	9799596
GO:0004523	Function	RNA-DNA hybrid ribonuclease activity	IBA	21873635
GO:0004523	Function	RNA-DNA hybrid ribonuclease activity	IDA	21700224
GO:0004540	Function	Ribonuclease activity	TAS	9799596
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0006401	Process	RNA catabolic process	TAS	9799596
GO:0043137	Process	DNA replication, removal of RNA primer	IBA	21873635
GO:0090502	Process	RNA phosphodiester bond hydrolysis, endonucleolytic	IBA	21873635

Other IDs

• MIM: 604123
• HGNC: 18466
• e!Ensembl: ENSG00000171865

Protein

• UniProt ID: O60930
• Protein name: Ribonuclease H1 (RNase H1) (EC 3.1.26.4) (Ribonuclease H type II)
• Protein function: Endonuclease that specifically degrades the RNA of RNA-DNA hybrids (PubMed:10497183). Plays a role in RNA polymerase II (RNAp II) transcription termination by degrading R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of
• PDB: 2QK9, 2QKB, 2QKK, 3BSU, 6VRD, 8SWB, 8SWC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01693	Cauli_VI	27 → 70	Caulimovirus viroplasmin	Family
  PF00075	RNase_H	138 → 282	RNase H	Domain

• Sequence:

  MSWLLFLAHRVALAALPCRRGSRGFGMFYAVRRGRKTGVFLTWNECRAQVDRFPAARFKK
  FATEDEAWAFVRKSASPEVSEGHENQHGQESEAKASKRLREPLDGDGHESAEPYAKHMKP
  SVEPAPPVSRDTFSYMGDFVVVYTDGCCSSNGRRRPRAGIGVYWGPGHPLNVGIRLPGRQ
  TNQRAEIHAACKAIEQAKTQNINKLVLYTDSMFTINGITNWVQGWKKNGWKTSAGKEVIN
  KEDFVALERLTQGMDIQWMHVPGHSGFIGNEEADRLAREGAKQSED

• Sequence length: 286

Pathways

KEGG:

DNA replication

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cardiomyopathy	Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs397514444, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
External ophthalmoplegia	External Ophthalmoplegia	rs1569484022
Migraine	Migraine Disorders	rs794727411
Progressive external ophthalmoplegia with mitochondrial dna deletions	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2	rs111033572, rs111033573, rs111033574, rs111033575, rs111033576, rs111033577, rs28937887, rs111033579, rs80356543, rs267606682, rs104894632, rs121918310, rs104893631, rs137854431, rs113994099, rs113994095, rs121918044, rs121918045, rs113994098, rs121918051, rs121918054, rs121918055, rs104893873, rs104893874, rs104893876, rs28999114, rs515726199, rs515726201, rs137886900, rs281865495, rs397514659, rs1568079613, rs796052888, rs144500145, rs769410130, rs863223949, rs863224209, rs763615602, rs762550967, rs879255617, rs769827124, rs766294940, rs373442996, rs1057517675, rs1554887097, rs1554887213, rs200944917, rs376902371, rs1555453538, rs1567186779, rs758026634, rs1597981046, rs1596352300, rs775260762	26094573
Retinitis pigmentosa	Retinitis Pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114, rs483352894, rs121908282, rs549625604, rs137852832, rs1587620953, rs104893680, rs587777805, rs386834261, rs104894474, rs104894475, rs28940315, rs387906272, rs202126574, rs267607017, rs80338903, rs397518008, rs111033367, rs121912599, rs80338902, rs111033364, rs111033272, rs121912600, rs587776538, rs111033334, rs80338904, rs121909398, rs119103286, rs587777809, rs121434241, rs121434242, rs121434243, rs121434236, rs121434238, rs121434239, rs121434240, rs267607034, rs267606874, rs267606876, rs267606875, rs1555468634, rs28940869, rs193919337, rs587776589, rs119475042, rs587776590, rs119475043, rs1600344451, rs1600337143, rs587776591, rs121908140, rs1085307049, rs111033258, rs121908142, rs111033267, rs137852959, rs121908175, rs121908178, rs121908179, rs138043021, rs397515359, rs397515360, rs730880273, rs119489105, rs371956016, rs1600169350, rs104894492, rs104894493, rs28937873, rs121912631, rs1567160967, rs886037612, rs137853005, rs62635656, rs62635655, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs281865175, rs104894082, rs869320726, rs869320727, rs104894083, rs869320728, rs121909073, rs121909074, rs121909075, rs121909076, rs1581734819, rs1581742970, rs104894672, rs104894178, rs201578674, rs61751386, rs267607077, rs121918532, rs1567360969, rs137852696, rs104893967, rs61750173, rs118203888, rs62638644, rs62638651, rs62642057, rs62638634, rs62638637, rs137852549, rs606231180, rs606231181, rs62638646, rs2147248070, rs137852550, rs137852284, rs104894925, rs28933687, rs104894926, rs2147081376, rs104894927, rs35689081, rs113624356, rs121917777, rs104893768, rs29001566, rs29001637, rs28933394, rs104893769, rs104893771, rs104893772, rs104893773, rs104893779, rs104893774, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs29001653, rs104893780, rs104893781, rs104893787, rs28933395, rs104893786, rs104893782, rs104893791, rs104893792, rs104893788, rs104893793, rs104893794, rs121918590, rs104893795, rs104893797, rs137853290, rs766278489, rs28933990, rs137853291, rs1598717056, rs121918579, rs121918580, rs730880317, rs121918581, rs1553801591, rs121918583, rs121918576, rs121918577, rs121918578, rs61752895, rs61752871, rs62637004, rs121917744, rs61752909, rs121917745, rs61755777, rs61755806, rs121918563, rs61755793, rs61755792, rs61755816, rs61755786, rs61755771, rs61755794, rs61755783, rs104894459, rs763191889, rs121912550, rs121912552, rs121909599, rs121909600, rs62625014, rs104893736, rs781781440, rs779514800, rs387906646, rs387906648, rs62653011, rs121909835, rs869320618, rs61751399, rs775098953, rs374390376, rs387906971, rs1911001854, rs147394623, rs786200928, rs1064792852, rs387907136, rs387907137, rs387907192, rs376586707, rs201188361, rs387907268, rs747425652, rs1573554264, rs387907314, rs199476194, rs62645748, rs397514574, rs397514575, rs374963432, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs111033418, rs397517973, rs397517974, rs397517976, rs397517977, rs397517978, rs151148854, rs111033518, rs397517983, rs397517984, rs111033385, rs111033417, rs397517988, rs397517989, rs397517990, rs397517994, rs111033273, rs397518003, rs397518010, rs397518011, rs397518013, rs397518014, rs397518018, rs375668376, rs397518021, rs397518022, rs397518023, rs111033386, rs111033268, rs397518029, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs397518046, rs41308425, rs397518048, rs73090721, rs111033263, rs146150511, rs387907367, rs386833717, rs386834012, rs386834019, rs386834024, rs386834152, rs398122391, rs879255568, rs398122960, rs398122961, rs398122962, rs398122963, rs398122964, rs398122525, rs398123298, rs398123336, rs1800728, rs398123538, rs398123575, rs398123576, rs372504780, rs398124544, rs398124618, rs398124619, rs149614625, rs587777086, rs431905521, rs61755781, rs61755785, rs61755787, rs61755796, rs61755800, rs61755805, rs61755807, rs61755810, rs61755817, rs62645935, rs281865373, rs61748433, rs62635002, rs62653030, rs281865304, rs62638633, rs62638645, rs62640589, rs61751276, rs61751281, rs61751282, rs62637006, rs62637007, rs61752873, rs281865285, rs61752883, rs61752884, rs281865286, rs61748550, rs61748558, rs61748559, rs61751385, rs61749409, rs61749414, rs61749418, rs61752401, rs61751263, rs62654397, rs61748526, rs61751395, rs61749433, rs61752407, rs62642570, rs61749451, rs61749459, rs61750065, rs61751398, rs62645946, rs61750137, rs61754044, rs61750140, rs61751402, rs281865377, rs61751388, rs61750152, rs62642574, rs61750155, rs61750567, rs61753023, rs61750571, rs61751406, rs61753029, rs61753030, rs61751389, rs61750639, rs61753043, rs61750653, rs61750654, rs61753046, rs63749055, rs62645958, rs62645944, rs62636511, rs281865168, rs281865171, rs281865166, rs62638179, rs281865188, rs62645754, rs62636264, rs62636266, rs62636267, rs62636273, rs62635659, rs62645752, rs137853923, rs730880283, rs587777272, rs587777273, rs202210819, rs587777376, rs587777377, rs483353056, rs587777599, rs527236085, rs527236089, rs527236091, rs527236088, rs527236090, rs527236097, rs527236098, rs148460146, rs527236101, rs527236100, rs527236102, rs527236062, rs527236055, rs527236056, rs527236109, rs527236108, rs527236111, rs527236112, rs527236092, rs527236059, rs527236058, rs527236077, rs527236072, rs527236075, rs527236073, rs527236065, rs527236074, rs527236071, rs527236068, rs527236069, rs527236078, rs527236066, rs527236076, rs527236070, rs527236067, rs527236082, rs527236060, rs527236061, rs372989281, rs527236079, rs527236116, rs527236087, rs201493928, rs527236105, rs527236083, rs527236134, rs527236096, rs527236113, rs527236114, rs527236086, rs527236094, rs144738703, rs527236095, rs199867882, rs527236099, rs114342808, rs527236139, rs527236137, rs527236127, rs527236124, rs527236126, rs527236125, rs527236121, rs527236123, rs55958016, rs527236120, rs527236118, rs587783013, rs727505116, rs727503731, rs146733615, rs727504867, rs727503715, rs727505343, rs727503723, rs727503725, rs730880349, rs727505337, rs727503736, rs727504893, rs727504075, rs730882149, rs730882261, rs148412181, rs746523071, rs786204428, rs750228923, rs749909863, rs786205444, rs786205445, rs786205447, rs786205450, rs767745816, rs2723341, rs786205493, rs368098126, rs761628767, rs786205533, rs786205534, rs786205535, rs786205545, rs786205564, rs763295314, rs797044561, rs793888523, rs786205610, rs786205626, rs786205644, rs786205652, rs750542962, rs863223342, rs863223341, rs863223338, rs863223344, rs863223339, rs863223340, rs779007169, rs863223343, rs786205856, rs786205857, rs786205858, rs794726979, rs372354156, rs794727120, rs794727139, rs794727197, rs794727281, rs754012367, rs373441420, rs761238771, rs775557680, rs794727579, rs794727631, rs797044735, rs201657446, rs372347027, rs148660051, rs779791079, rs753330544, rs794727903, rs875989821, rs781192528, rs386833744, rs746174328, rs797045089, rs752683070, rs770258677, rs797045120, rs376306240, rs368049814, rs770558150, rs797045224, rs863224862, rs863224894, rs759781200, rs771214648, rs372659908, rs201541131, rs869312182, rs869312180, rs869312179, rs758052437, rs869312177, rs869312188, rs869312183, rs869312187, rs1060499536, rs749012133, rs762951570, rs760225886, rs766590491, rs876657733, rs876657731, rs397517963, rs876657730, rs876657718, rs876661403, rs775177930, rs61750138, rs768278935, rs201471607, rs61749427, rs61752398, rs765707028, rs767648174, rs368675850, rs878853407, rs878853413, rs878853410, rs878853354, rs878853353, rs750151209, rs761440783, rs199584830, rs878853350, rs878853349, rs143994166, rs878853327, rs878853328, rs760430056, rs878853394, rs868538598, rs879253768, rs879255547, rs200826424, rs368217569, rs886037911, rs886037947, rs886037948, rs886037949, rs764256655, rs751130485, rs886039450, rs886039449, rs145961131, rs886039422, rs753355844, rs748810737, rs886039867, rs886041040, rs886041502, rs748394238, rs770185023, rs753353134, rs886041773, rs886041376, rs886041178, rs758109813, rs750396156, rs886042613, rs749526785, rs886042722, rs371777049, rs115352681, rs773539640, rs886043417, rs886043587, rs201855602, rs886044304, rs770748359, rs770284500, rs141563823, rs752953889, rs762991211, rs749199721, rs1057517533, rs536593247, rs373208120, rs376894444, rs1057517844, rs374536346, rs116471343, rs865990202, rs1057517700, rs543698823, rs1057518922, rs1057518949, rs368088025, rs1057519193, rs556788423, rs1057519316, rs1057519427, rs1057519317, rs1057519341, rs1057520152, rs759898765, rs397517979, rs199840367, rs61750638, rs779466403, rs1057520213, rs766246531, rs1060499783, rs1060501181, rs987233144, rs1064793000, rs1064793001, rs767689418, rs1064793002, rs1060505042, rs748014296, rs62636260, rs1064793289, rs1064795279, rs200712760, rs1064795047, rs1064793506, rs1064793745, rs137954284, rs762150575, rs559155109, rs769671323, rs61755776, rs1064796020, rs199740930, rs1064794848, rs139842473, rs1064794342, rs1064794573, rs778884136, rs777849213, rs1555558169, rs1064797113, rs1064797133, rs1064797134, rs770011113, rs1064797215, rs4672457, rs1064797304, rs773065850, rs1064797364, rs1064797365, rs1085307446, rs1085307972, rs1085307968, rs62645747, rs753886165, rs1555962831, rs1556313552, rs140451304, rs539192853, rs749702843, rs752762669, rs1553449458, rs776788104, rs1553260517, rs145282040, rs773914330, rs757740068, rs1003869920, rs1553252388, rs762388072, rs762159022, rs1362058696, rs1553257498, rs1553257685, rs1288381992, rs1285853856, rs1388040238, rs1553263639, rs751111524, rs1553273280, rs1553274531, rs1035024403, rs746551311, rs780308389, rs1338169194, rs772808534, rs199683808, rs778234759, rs1553188588, rs1553192726, rs764759172, rs541717028, rs746238212, rs1553513437, rs569826109, rs367658438, rs1178184685, rs1553354861, rs754995805, rs770339774, rs1553681348, rs1553687058, rs1553780837, rs1553781176, rs771054395, rs201644238, rs780697796, rs745413794, rs567961453, rs781003757, rs370898371, rs1360937549, rs1553812554, rs753942596, rs144484128, rs146591309, rs773278338, rs1554338016, rs1554268546, rs1554269053, rs1554194404, rs1346842287, rs1554204963, rs1554152094, rs181169439, rs1554183432, rs1554183440, rs930421180, rs1291867456, rs1554214453, rs760798455, rs764163418, rs765129639, rs1554519533, rs1554519538, rs1554519546, rs1554519554, rs1554519555, rs1554519577, rs1554519635, rs1449723475, rs1554519651, rs769601671, rs1554520068, rs1554671407, rs756678484, rs1477733493, rs1555099048, rs1555050487, rs756632517, rs781670422, rs1555302710, rs766096417, rs377257254, rs773372123, rs756806434, rs1555488069, rs1555488573, rs760373259, rs1352458826, rs1555493707, rs750620302, rs189234741, rs752997229, rs1555801989, rs1555791188, rs1555793207, rs1555794302, rs748531024, rs1555961832, rs1555961849, rs1555961852, rs1555961964, rs1555962965, rs1555964122, rs1555964133, rs771039023, rs1555965653, rs1555965712, rs1555968526, rs1556318627, rs1556318633, rs1555468632, rs1555794509, rs1461319754, rs1555049194, rs1555468920, rs1231250334, rs1555792879, rs1555793828, rs1233480483, rs1161389116, rs1554090012, rs1554125521, rs1554417054, rs1554519822, rs1555961624, rs559371453, rs1555487977, rs1441549097, rs758052634, rs1553121073, rs758593134, rs1554289078, rs1553122926, rs764831063, rs754768875, rs374268850, rs1420628245, rs1553781140, rs1555961677, rs1555961787, rs1369414978, rs1366496013, rs774573692, rs534534437, rs769838859, rs777678022, rs753090404, rs201730567, rs199679165, rs143344549, rs777465132, rs1554163929, rs751176116, rs1553454799, rs564754426, rs1553250072, rs141672841, rs1553354826, rs201823777, rs1419157426, rs1553261478, rs1553253747, rs1309140887, rs776886395, rs1553681433, rs1553687118, rs370758397, rs1278053918, rs1555965107, rs1555474009, rs1423102192, rs1553515435, rs753994107, rs1554269081, rs769512989, rs1239043055, rs1555794205, rs1553272035, rs1555216730, rs1555550617, rs1553354522, rs748847284, rs1433546528, rs1555968248, rs1555968524, rs1556318642, rs1553263572, rs199636364, rs765476745, rs768161313, rs1553252499, rs763463859, rs1553248234, rs1553250192, rs1553252041, rs1177257719, rs1212608410, rs200871041, rs1553248216, rs757676723, rs747160949, rs764917754, rs1295968274, rs1553261898, rs1553250416, rs764182950, rs753505333, rs747063294, rs1553249294, rs1553252052, rs367674026, rs779572631, rs1553257707, rs746447649, rs1553268562, rs1553271002, rs1431048303, rs749452910, rs1553273330, rs1553274448, rs779716464, rs1553257705, rs1485173724, rs1553261372, rs1553250050, rs111033382, rs1553285919, rs1553287118, rs1553250150, rs1553299079, rs1162305984, rs199782530, rs370327669, rs944675223, rs769001387, rs199982344, rs1553313308, rs1553261479, rs988693758, rs1553313793, rs760302201, rs1553271001, rs1553313810, rs1414935620, rs749726310, rs1380261595, rs770383273, rs993185407, rs483353054, rs1553273412, rs1553273421, rs1269642027, rs1553268582, rs762608746, rs780779563, rs1553287070, rs1553294144, rs772124060, rs1553270954, rs1553259179, rs1553258122, rs775293551, rs1553272201, rs754374132, rs1553300016, rs1553274424, rs1553300558, rs772100045, rs771051185, rs1553272176, rs143521854, rs1553300340, rs745350407, rs756623509, rs764797292, rs1284826852, rs767078782, rs1342455785, rs1553320451, rs1177198729, rs372927796, rs1553250627, rs1394737087, rs768813865, rs748961218, rs771583281, rs1188025733, rs868562952, rs762384558, rs758571672, rs1553250952, rs1171672823, rs758303489, rs1553257761, rs1484339054, rs1553258097, rs1553258037, rs781223647, rs1187839124, rs767414973, rs376155416, rs1326370032, rs1427770112, rs528919874, rs764229134, rs750840208, rs752736741, rs1165454778, rs1554220416, rs751629543, rs1554171033, rs763028732, rs1168101857, rs747240928, rs1207247951, rs1555454566, rs199830550, rs192907397, rs1429137932, rs1558049084, rs1558151555, rs748983904, rs1057518826, rs1558366840, rs1212998897, rs746141070, rs1560121685, rs1560122302, rs1560134806, rs868349465, rs1562079314, rs1562109990, rs1562140604, rs1562154478, rs749410700, rs1246397238, rs1563329888, rs1563330595, rs1563983151, rs1566561006, rs1566888340, rs1566585766, rs1566945534, rs777989874, rs771551785, rs1568600184, rs1569235677, rs1569237206, rs1569238659, rs1569258901, rs767797828, rs1262416703, rs776591659, rs1557447255, rs747393487, rs140039128, rs1160669210, rs1569257917, rs745422941, rs988133284, rs766053952, rs748369458, rs1558251742, rs1559100465, rs281865520, rs776526721, rs777103184, rs1318739667, rs1471994744, rs1562481438, rs1562263385, rs778627080, rs758660532, rs41314534, rs1301139848, rs777629750, rs970990957, rs1466666397, rs779334655, rs1558146243, rs1569236971, rs1569237077, rs775957498, rs1566560531, rs1558112968, rs552517556, rs777215595, rs373203896, rs752930400, rs1569235999, rs779169631, rs1560046837, rs776727320, rs767994904, rs772057239, rs186643840, rs779983752, rs1562220891, rs1428612396, rs200862689, rs530749007, rs200248198, rs150412614, rs1360258103, rs1573592033, rs1578278438, rs1197105310, rs1582928662, rs777889289, rs1602347992, rs781705903, rs1571572235, rs1571945537, rs201238640, rs1571953381, rs1453306308, rs201863550, rs1571941465, rs1571941589, rs753908845, rs1572060087, rs771000800, rs1570382663, rs772421550, rs1572826522, rs959069360, rs1578278354, rs768210562, rs1578281136, rs766357803, rs750147338, rs1577296602, rs1581180469, rs1581190641, rs1265680220, rs976670244, rs1581312596, rs1581697849, rs753314164, rs61755811, rs748838955, rs1582221424, rs74419361, rs777482895, rs1582376609, rs1468020897, rs1585557752, rs1585563087, rs1250214380, rs1585563204, rs1585563965, rs1585564175, rs879399888, rs1585567204, rs368489658, rs1594866237, rs759339012, rs1595956455, rs1595956595, rs1365926616, rs775887058, rs1596974169, rs1596996962, rs1600341902, rs1600341931, rs1600355373, rs1600355502, rs1600360338, rs1600360654, rs1601891936, rs1601891967, rs1601892395, rs1601926125, rs1601943227, rs1601943268, rs1601943462, rs1602347792, rs1602349705, rs1603288875, rs754970095, rs1573592124, rs1573607809, rs1578097528, rs781377291, rs781616522, rs1581211727, rs1432643009, rs1167742176, rs1562998089, rs1422250479, rs762276925, rs1596976316, rs1600340117, rs1057520752, rs1601890980, rs62638627, rs1602653742, rs1571523755, rs1571525390, rs140260219, rs1571623023, rs1571170561, rs754899711, rs1572934951, rs1578491064, rs1578860254, rs1302809734, rs1581744084, rs1582764878, rs1584179629, rs1585561400, rs1591277785, rs762326108, rs777420525, rs1238109100, rs62638648, rs1576623563, rs1589420011, rs1597331616, rs201205811, rs763324776, rs770984400, rs760858249, rs748863844, rs770329105, rs772748858, rs1187991259, rs1281095503, rs1231668679, rs767882032, rs1225304963, rs371032798, rs1345460401, rs200387832, rs1293202153, rs1574426870, rs776204925, rs758899480, rs1582079626, rs776564041, rs1602190224, rs751413984, rs769723975, rs1584799745, rs776206391, rs1300041533, rs747512450, rs1571158279, rs561075447, rs1571878277, rs745348555, rs1571557864, rs1450635782, rs62635649, rs1571783742, rs759433119, rs1415484067, rs1415157305, rs752058510, rs1573613491, rs774577413, rs778383770, rs746291728, rs1003615909, rs1578278088, rs1578278417, rs371288618, rs1578281565, rs1578281706, rs373680665, rs1355802816, rs745704627, rs374017889, rs1037963003, rs1577301589, rs1577311264, rs1581164958, rs375659222, rs769824975, rs1582140331, rs902462590, rs983691310, rs1562079278, rs1305702728, rs928803207, rs1583260302, rs1583277585, rs1391928253, rs1583442540, rs1582176424, rs760283610, rs770659908, rs1585564369, rs1246790145, rs1589337745, rs888090139, rs1596997875, rs1597223214, rs1600324262, rs1600324442, rs1439576531, rs1600335289, rs1600337158, rs764232082, rs1600350656, rs1601917999, rs1601922202, rs1601923813, rs1601924184, rs1601947074, rs1601961064, rs1601974881, rs1601978817, rs1601978823, rs1601978925, rs1601982532, rs1602347637, rs1602355025, rs1600334904, rs1572027164, rs111033408, rs1571703801, rs1572827477, rs755429480, rs1600335148, rs1254494198, rs1601922877, rs1601924111, rs1589590737, rs1573627154, rs1573638426, rs778005207, rs1424131846, rs1582929649, rs1572263404, rs1582139965, rs1571848659, rs1571848744, rs1571524269, rs768905244, rs1571540258, rs760544654, rs1571681377, rs1571715796, rs768158580, rs368687374, rs1571805235, rs1557600322, rs1571253050, rs779743222, rs1574489337, rs1285501658, rs369937337, rs774215025, rs1572829514, rs1572875669, rs1316281505, rs1578279746, rs1578280574, rs1578280588, rs377600857, rs1575415957, rs1293620319, rs1578059695, rs759079269, rs1560621807, rs1577288305, rs1581164936, rs1581166539, rs1581217626, rs1581727126, rs1581738478, rs763272975, rs375978676, rs1582139184, rs1582139308, rs1168129071, rs1582146096, rs1582930081, rs1582932583, rs749103801, rs1582376398, rs1584728115, rs1585559122, rs1585563283, rs1585563328, rs1587620892, rs794726954, rs1589313739, rs1594214013, rs1371805993, rs1594224781, rs1594280914, rs1594246708, rs1594867516, rs1594867597, rs776270511, rs1595957521, rs1028371920, rs1597445687, rs1176869304, rs1597340989, rs886276412, rs1479239564, rs1600342032, rs1184467860, rs1555961440, rs1346308311, rs1601920423, rs1601920599, rs1601923388, rs1601923578, rs907856232, rs1601940608, rs281865302, rs1601951704, rs1601972255, rs1601972449, rs1601978991, rs1602342597, rs1602347786, rs1602347851, rs1276597208, rs1577301137, rs1561671507, rs1595009158, rs1597951232, rs1600342050, rs1602071514, rs1601931052, rs1602342663, rs1658062720, rs1653548589, rs1659645978, rs1659651471, rs1660519681, rs1664301074, rs771257822, rs1656419435, rs1656646424, rs754834155, rs948087886, rs755099565, rs1657965422, rs1657992030, rs1657996197, rs1386612395, rs1660298900, rs764113446, rs1259758261, rs1664490756, rs1667316070, rs1421761057, rs2032462132, rs758733024, rs2036149054, rs2039692173, rs1659900155, rs1659902823, rs1660937747, rs1661098509, rs1676223605, rs1676864299, rs748204331, rs1671239184, rs1706625164, rs1706833794, rs1707008452, rs2058802102, rs1717541693, rs1738719686, rs867483436, rs1734061767, rs1736425011, rs1736426982, rs1737229618, rs1737442897, rs1761073125, rs1752838269, rs1754418004, rs1773160727, rs986748364, rs1761908297, rs1488052513, rs1769471082, rs1455826633, rs1766367970, rs1300490966, rs1768038999, rs368159852, rs1766217655, rs1286660951, rs1238921380, rs1784160131, rs886210482, rs1806033536, rs1806033844, rs1806128576, rs1205613982, rs1830219226, rs777019428, rs1555210929, rs1836974640, rs1856758582, rs2036808766, rs1163040913, rs745934202, rs1257334132, rs2054205040, rs2051588436, rs2074970792, rs2073701678, rs2073702243, rs2073704298, rs2073708638, rs2073818085, rs1411470197, rs2073962058, rs2073962186, rs2073964950, rs1314226094, rs2073970897, rs2073971805, rs2067117666, rs2067124487, rs2067127275, rs2067159265, rs2067175855, rs2067180233, rs1854473658, rs2067185063, rs2067191541, rs2067192032, rs2067193671, rs2067194747, rs2067198376, rs2067203546, rs1601943325, rs2067498051, rs2067562201, rs2067845149, rs2067985165, rs2067987832, rs1924521431, rs1924897691, rs1924907742, rs1925391988, rs2037140260, rs2031451980, rs1358947010, rs1470798497, rs1601920131, rs34713174, rs1571948114, rs774677256, rs1581186849, rs1601920532, rs1578280614, rs1601951595, rs1585959862, rs748984657, rs1585963931, rs1572879569, rs201070350, rs1571805164, rs768445391, rs1044562973, rs1572829010, rs768837125, rs1582249186, rs1585569717, rs151141842, rs1600356790, rs778731851, rs369184026, rs1665487563, rs1657798642, rs771260365, rs750321557, rs767328784, rs1662880750, rs1424639717, rs1664846292, rs1667471296, rs769609970, rs2032072206, rs201529124, rs2034899784, rs1364987785, rs1191816747, rs780007963, rs1487540503, rs188492864, rs1688308445, rs1476585944, rs769632183, rs748396645, rs772325487, rs769445913, rs1673040470, rs2063883437, rs2084776162, rs2084776365, rs777851867, rs772867912, rs1476546899, rs145605739, rs759537984, rs141252097, rs754916169, rs748972748, rs1166245419, rs771640639, rs1768367412, rs764362221, rs1050742628, rs1299355731, rs184722374, rs1477705832, rs1561965266, rs761760327, rs1245304444, rs1431710414, rs1767601438, rs1764940309, rs1389794536, rs989589885, rs1769936722, rs1765726534, rs780433094, rs1231321479, rs765035454, rs759505780, rs774264204, rs1924904597, rs776014770, rs1662191792, rs1228475082, rs1772614934, rs1193854376, rs748946491, rs767630412, rs746128841, rs748977292, rs1767600988, rs1769267226, rs373232101, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs1664671663, rs1558138741, rs1656646221, rs1485393201, rs1657976232, rs1657992342, rs1657997730, rs762070900, rs1660922779, rs1661140054, rs1661687852, rs1662771528, rs1558121260, rs1665132445, rs755032078, rs2032459600, rs769198746, rs2034852728, rs2036054600, rs757154662, rs766370703, rs2038566220, rs1195779037, rs2039690812, rs1362964563, rs1242866408, rs775776288, rs1278226911, rs1238123416, rs1689010156, rs200711686, rs1667504255, rs753619551, rs1558490060, rs866543181, rs770399625, rs1472199114, rs764109533, rs1415160298, rs2084785435, rs1402468701, rs984572250, rs768694789, rs1237954156, rs1737429976, rs373037737, rs759563967, rs751589956, rs774204108, rs1409801782, rs1768346880, rs772549804, rs1431427428, rs1770904723, rs909730457, rs1245121527, rs1767699695, rs1295206142, rs746499646, rs1766006937, rs779372264, rs749460193, rs371886218, rs1488237523, rs1806079331, rs1489149705, rs955766374, rs1210263161, rs2073701307, rs2073926924, rs1342475527, rs2067114709, rs2067115815, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067136586, rs2067140471, rs2067144007, rs2067146007, rs1555961509, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169934, rs2067170858, rs2067172824, rs2067174697, rs1233849070, rs2067176160, rs2067176379, rs1373833359, rs1601922510, rs2067182354, rs2067182636, rs2067182990, rs2067183162, rs2067184023, rs2067185564, rs2067186632, rs2067186762, rs2067187127, rs2067187550, rs2067187618, rs2067188031, rs2067188111, rs2067190364, rs2067190922, rs2067191154, rs2067191335, rs2067191635, rs1305342570, rs2067193056, rs2067194648, rs1569237670, rs762837543, rs760287363, rs1235430504, rs1371160062, rs2031604509, rs1558244152, rs2034951427, rs912980910, rs1662599697, rs1005130980, rs1334444660, rs898144119, rs1383907349, rs1753232409, rs1769469813, rs1961362638, rs2073798309, rs2073961843, rs1836931186, rs1661659605, rs1645824187, rs1343680080, rs1660517678, rs765676754, rs1366609497, rs1656942613, rs1347261858, rs1685567937, rs1667513233, rs1805984836, rs2073842959, rs2067140574, rs2067148119, rs2067166789, rs2067179633, rs2067200470, rs1924900389, rs2034938852
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar atrophy	Cerebellar atrophy
External ophthalmoplegia with mitochondrial myopathy	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Dysarthria	Dysarthria
Dysphagia	Deglutition Disorders
Esotropia	Esotropia
High palate	Byzanthine arch palate
Progressive external ophthalmoplegia	Chronic progressive external ophthalmoplegia	rs515726194, rs387906891, rs387906892, rs1556423295, rs2072267
Ptosis	Blepharoptosis, Ptosis	rs139920573
Sensorimotor neuropathy	Sensorimotor neuropathy