ATP6V0A2 (ATPase H+ transporting V0 subunit a2)

Gene

• Entrez ID: 23545
• Gene name: ATPase H+ transporting V0 subunit a2
• Gene symbol: ATP6V0A2
• Synonyms: A2, ARCL, ARCL2A, ATP6A2, ATP6N1D, J6B7, RTF, STV1, TJ6, TJ6M, TJ6S, VPH1, WSS, a2V
• Chromosome: 12
• Chromosome location: 12q24.31
• Summary: The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80356753	A>G	Pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs80356754	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs80356755	G>T	Pathogenic	Coding sequence variant, stop gained
rs80356756	A>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs80356758	C>T	Pathogenic	Coding sequence variant, stop gained
rs138716143	G>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, coding sequence variant
rs138886791	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139680786	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs142454880	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs143142641	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs146156426	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs146967928	A>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150508296	T>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, synonymous variant, coding sequence variant
rs189175284	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs367543007	CA>-	Pathogenic	Intron variant, splice acceptor variant
rs374480381	G>A	Pathogenic	Splice donor variant
rs398124257	T>C	Pathogenic	Genic upstream transcript variant, splice donor variant, upstream transcript variant
rs745590426	->C	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1566294545	GGCGTCT>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT672124	hsa-miR-6895-5p	HITS-CLIP	23824327
MIRT677125	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT458184	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT672123	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT672122	hsa-miR-4284	HITS-CLIP	23824327
MIRT672120	hsa-miR-4640-5p	HITS-CLIP	23824327
MIRT672119	hsa-miR-4726-5p	HITS-CLIP	23824327
MIRT672118	hsa-miR-7977	HITS-CLIP	23824327
MIRT672117	hsa-miR-3678-3p	HITS-CLIP	23824327
MIRT672124	hsa-miR-6895-5p	HITS-CLIP	23824327
MIRT458184	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT672123	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT672122	hsa-miR-4284	HITS-CLIP	23824327
MIRT672121	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT672120	hsa-miR-4640-5p	HITS-CLIP	23824327
MIRT672119	hsa-miR-4726-5p	HITS-CLIP	23824327
MIRT672118	hsa-miR-7977	HITS-CLIP	23824327
MIRT672117	hsa-miR-3678-3p	HITS-CLIP	23824327
MIRT572984	hsa-miR-1183	PAR-CLIP	20371350
MIRT572983	hsa-miR-4754	PAR-CLIP	20371350
MIRT458202	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT458201	hsa-miR-302f	PAR-CLIP	23592263
MIRT458200	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT458199	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT458198	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT458197	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT458196	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT458195	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT458194	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT458193	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT458192	hsa-miR-4761-3p	PAR-CLIP	23592263
MIRT458191	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT458189	hsa-miR-4459	PAR-CLIP	23592263
MIRT458190	hsa-miR-665	PAR-CLIP	23592263
MIRT458188	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458187	hsa-miR-302a-5p	PAR-CLIP	23592263
MIRT458186	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT458185	hsa-miR-1827	PAR-CLIP	23592263
MIRT458184	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT458183	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT458182	hsa-miR-4804-3p	PAR-CLIP	23592263
MIRT458181	hsa-miR-4720-3p	PAR-CLIP	23592263
MIRT458180	hsa-miR-3612	PAR-CLIP	23592263
MIRT458179	hsa-miR-650	PAR-CLIP	23592263
MIRT458178	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT458185	hsa-miR-1827	PAR-CLIP	27292025
MIRT458185	hsa-miR-1827	PAR-CLIP	27292025
MIRT458199	hsa-miR-1910-3p	PAR-CLIP	27292025
MIRT458199	hsa-miR-1910-3p	PAR-CLIP	27292025
MIRT458184	hsa-miR-2467-3p	PAR-CLIP	27292025
MIRT458184	hsa-miR-2467-3p	PAR-CLIP	27292025
MIRT458187	hsa-miR-302a-5p	PAR-CLIP	27292025
MIRT458187	hsa-miR-302a-5p	PAR-CLIP	27292025
MIRT458180	hsa-miR-3612	PAR-CLIP	27292025
MIRT458180	hsa-miR-3612	PAR-CLIP	27292025
MIRT458189	hsa-miR-4459	PAR-CLIP	27292025
MIRT458200	hsa-miR-4695-5p	PAR-CLIP	27292025
MIRT458200	hsa-miR-4695-5p	PAR-CLIP	27292025
MIRT458181	hsa-miR-4720-3p	PAR-CLIP	27292025
MIRT458181	hsa-miR-4720-3p	PAR-CLIP	27292025
MIRT458182	hsa-miR-4804-3p	PAR-CLIP	27292025
MIRT458182	hsa-miR-4804-3p	PAR-CLIP	27292025
MIRT458179	hsa-miR-650	PAR-CLIP	27292025
MIRT458179	hsa-miR-650	PAR-CLIP	27292025
MIRT458198	hsa-miR-6511a-5p	PAR-CLIP	27292025
MIRT458198	hsa-miR-6511a-5p	PAR-CLIP	27292025
MIRT458190	hsa-miR-665	PAR-CLIP	27292025
MIRT458190	hsa-miR-665	PAR-CLIP	27292025
MIRT458202	hsa-miR-6771-3p	PAR-CLIP	27292025
MIRT458202	hsa-miR-6771-3p	PAR-CLIP	27292025
MIRT458188	hsa-miR-6840-3p	PAR-CLIP	27292025
MIRT458188	hsa-miR-6840-3p	PAR-CLIP	27292025
MIRT672124	hsa-miR-6895-5p	HITS-CLIP	23824327
MIRT677125	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT458184	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT672123	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT672122	hsa-miR-4284	HITS-CLIP	23824327
MIRT672120	hsa-miR-4640-5p	HITS-CLIP	23824327
MIRT672119	hsa-miR-4726-5p	HITS-CLIP	23824327
MIRT672118	hsa-miR-7977	HITS-CLIP	23824327
MIRT672117	hsa-miR-3678-3p	HITS-CLIP	23824327
MIRT672124	hsa-miR-6895-5p	HITS-CLIP	23824327
MIRT458184	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT672123	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT672122	hsa-miR-4284	HITS-CLIP	23824327
MIRT672121	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT672120	hsa-miR-4640-5p	HITS-CLIP	23824327
MIRT672119	hsa-miR-4726-5p	HITS-CLIP	23824327
MIRT672118	hsa-miR-7977	HITS-CLIP	23824327
MIRT672117	hsa-miR-3678-3p	HITS-CLIP	23824327
MIRT572984	hsa-miR-1183	PAR-CLIP	20371350
MIRT572983	hsa-miR-4754	PAR-CLIP	20371350
MIRT458202	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT458201	hsa-miR-302f	PAR-CLIP	23592263
MIRT458200	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT458199	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT458198	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT458197	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT458196	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT458195	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT458194	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT458193	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT458192	hsa-miR-4761-3p	PAR-CLIP	23592263
MIRT458191	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT458189	hsa-miR-4459	PAR-CLIP	23592263
MIRT458190	hsa-miR-665	PAR-CLIP	23592263
MIRT458188	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458187	hsa-miR-302a-5p	PAR-CLIP	23592263
MIRT458186	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT458185	hsa-miR-1827	PAR-CLIP	23592263
MIRT458184	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT458183	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT458182	hsa-miR-4804-3p	PAR-CLIP	23592263
MIRT458181	hsa-miR-4720-3p	PAR-CLIP	23592263
MIRT458180	hsa-miR-3612	PAR-CLIP	23592263
MIRT458179	hsa-miR-650	PAR-CLIP	23592263
MIRT458178	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT808534	hsa-miR-1225-5p	CLIP-seq
MIRT808535	hsa-miR-124	CLIP-seq
MIRT808536	hsa-miR-1245b-3p	CLIP-seq
MIRT808537	hsa-miR-1297	CLIP-seq
MIRT808538	hsa-miR-1305	CLIP-seq
MIRT808539	hsa-miR-193a-3p	CLIP-seq
MIRT808540	hsa-miR-193b	CLIP-seq
MIRT808541	hsa-miR-202	CLIP-seq
MIRT808542	hsa-miR-24	CLIP-seq
MIRT808543	hsa-miR-2682	CLIP-seq
MIRT808544	hsa-miR-26a	CLIP-seq
MIRT808545	hsa-miR-26b	CLIP-seq
MIRT808546	hsa-miR-2964a-3p	CLIP-seq
MIRT808547	hsa-miR-3122	CLIP-seq
MIRT808548	hsa-miR-3126-5p	CLIP-seq
MIRT808549	hsa-miR-3132	CLIP-seq
MIRT808550	hsa-miR-3135	CLIP-seq
MIRT808551	hsa-miR-3143	CLIP-seq
MIRT808552	hsa-miR-3157-5p	CLIP-seq
MIRT808553	hsa-miR-3165	CLIP-seq
MIRT808554	hsa-miR-3176	CLIP-seq
MIRT808555	hsa-miR-3189-3p	CLIP-seq
MIRT808556	hsa-miR-337-3p	CLIP-seq
MIRT808557	hsa-miR-3622a-3p	CLIP-seq
MIRT808558	hsa-miR-3622b-3p	CLIP-seq
MIRT808559	hsa-miR-3653	CLIP-seq
MIRT808560	hsa-miR-3658	CLIP-seq
MIRT808561	hsa-miR-3665	CLIP-seq
MIRT808562	hsa-miR-3685	CLIP-seq
MIRT808563	hsa-miR-3689a-3p	CLIP-seq
MIRT808564	hsa-miR-3689c	CLIP-seq
MIRT808565	hsa-miR-3714	CLIP-seq
MIRT808566	hsa-miR-371-5p	CLIP-seq
MIRT808567	hsa-miR-371b-5p	CLIP-seq
MIRT808568	hsa-miR-384	CLIP-seq
MIRT808569	hsa-miR-3910	CLIP-seq
MIRT808570	hsa-miR-3913-5p	CLIP-seq
MIRT808571	hsa-miR-3915	CLIP-seq
MIRT808572	hsa-miR-3922-3p	CLIP-seq
MIRT808573	hsa-miR-3928	CLIP-seq
MIRT808574	hsa-miR-3938	CLIP-seq
MIRT808575	hsa-miR-3975	CLIP-seq
MIRT808576	hsa-miR-4325	CLIP-seq
MIRT808577	hsa-miR-4419a	CLIP-seq
MIRT808578	hsa-miR-4426	CLIP-seq
MIRT808579	hsa-miR-4433	CLIP-seq
MIRT808580	hsa-miR-4465	CLIP-seq
MIRT808581	hsa-miR-4477a	CLIP-seq
MIRT808582	hsa-miR-449c	CLIP-seq
MIRT808583	hsa-miR-4510	CLIP-seq
MIRT808584	hsa-miR-4647	CLIP-seq
MIRT808585	hsa-miR-4662b	CLIP-seq
MIRT808586	hsa-miR-4666-3p	CLIP-seq
MIRT808587	hsa-miR-4684-5p	CLIP-seq
MIRT808588	hsa-miR-4699-5p	CLIP-seq
MIRT808589	hsa-miR-4719	CLIP-seq
MIRT808590	hsa-miR-4728-5p	CLIP-seq
MIRT808591	hsa-miR-4736	CLIP-seq
MIRT808592	hsa-miR-4761-5p	CLIP-seq
MIRT808593	hsa-miR-4797-5p	CLIP-seq
MIRT808594	hsa-miR-4803	CLIP-seq
MIRT808595	hsa-miR-487a	CLIP-seq
MIRT808596	hsa-miR-506	CLIP-seq
MIRT808597	hsa-miR-513b	CLIP-seq
MIRT808598	hsa-miR-520d-5p	CLIP-seq
MIRT808599	hsa-miR-524-5p	CLIP-seq
MIRT808600	hsa-miR-542-3p	CLIP-seq
MIRT808601	hsa-miR-544b	CLIP-seq
MIRT808602	hsa-miR-548aa	CLIP-seq
MIRT808603	hsa-miR-548ac	CLIP-seq
MIRT808604	hsa-miR-548d-3p	CLIP-seq
MIRT808605	hsa-miR-548z	CLIP-seq
MIRT808606	hsa-miR-555	CLIP-seq
MIRT808607	hsa-miR-562	CLIP-seq
MIRT808608	hsa-miR-759	CLIP-seq
MIRT808609	hsa-miR-940	CLIP-seq
MIRT1545614	hsa-miR-139-5p	CLIP-seq
MIRT808542	hsa-miR-24	CLIP-seq
MIRT1545615	hsa-miR-4310	CLIP-seq
MIRT1545616	hsa-miR-4477b	CLIP-seq
MIRT808586	hsa-miR-4666-3p	CLIP-seq
MIRT1545617	hsa-miR-4704-3p	CLIP-seq
MIRT1545618	hsa-miR-629	CLIP-seq
MIRT808538	hsa-miR-1305	CLIP-seq
MIRT1938836	hsa-miR-1321	CLIP-seq
MIRT1938837	hsa-miR-136	CLIP-seq
MIRT1938838	hsa-miR-2278	CLIP-seq
MIRT808542	hsa-miR-24	CLIP-seq
MIRT808547	hsa-miR-3122	CLIP-seq
MIRT808549	hsa-miR-3132	CLIP-seq
MIRT808550	hsa-miR-3135	CLIP-seq
MIRT1938839	hsa-miR-3155	CLIP-seq
MIRT1938840	hsa-miR-3155b	CLIP-seq
MIRT808552	hsa-miR-3157-5p	CLIP-seq
MIRT1938841	hsa-miR-3162-5p	CLIP-seq
MIRT1938842	hsa-miR-3184	CLIP-seq
MIRT808557	hsa-miR-3622a-3p	CLIP-seq
MIRT808558	hsa-miR-3622b-3p	CLIP-seq
MIRT1938843	hsa-miR-3622b-5p	CLIP-seq
MIRT808563	hsa-miR-3689a-3p	CLIP-seq
MIRT808564	hsa-miR-3689c	CLIP-seq
MIRT808566	hsa-miR-371-5p	CLIP-seq
MIRT808567	hsa-miR-371b-5p	CLIP-seq
MIRT808570	hsa-miR-3913-5p	CLIP-seq
MIRT1938844	hsa-miR-423-5p	CLIP-seq
MIRT1545615	hsa-miR-4310	CLIP-seq
MIRT808576	hsa-miR-4325	CLIP-seq
MIRT808579	hsa-miR-4433	CLIP-seq
MIRT1938845	hsa-miR-4511	CLIP-seq
MIRT1938846	hsa-miR-4698	CLIP-seq
MIRT1938847	hsa-miR-4728-3p	CLIP-seq
MIRT808590	hsa-miR-4728-5p	CLIP-seq
MIRT1938848	hsa-miR-4739	CLIP-seq
MIRT1938849	hsa-miR-4756-5p	CLIP-seq
MIRT808592	hsa-miR-4761-5p	CLIP-seq
MIRT1938850	hsa-miR-4793-3p	CLIP-seq
MIRT1938851	hsa-miR-4796-5p	CLIP-seq
MIRT1938852	hsa-miR-484	CLIP-seq
MIRT1938853	hsa-miR-510	CLIP-seq
MIRT808597	hsa-miR-513b	CLIP-seq
MIRT1938854	hsa-miR-515-5p	CLIP-seq
MIRT808598	hsa-miR-520d-5p	CLIP-seq
MIRT808599	hsa-miR-524-5p	CLIP-seq
MIRT808600	hsa-miR-542-3p	CLIP-seq
MIRT808601	hsa-miR-544b	CLIP-seq
MIRT1938855	hsa-miR-548b-3p	CLIP-seq
MIRT1938856	hsa-miR-628-5p	CLIP-seq
MIRT2177973	hsa-miR-1207-3p	CLIP-seq
MIRT2177974	hsa-miR-1208	CLIP-seq
MIRT808534	hsa-miR-1225-5p	CLIP-seq
MIRT2177975	hsa-miR-1258	CLIP-seq
MIRT2177976	hsa-miR-132	CLIP-seq
MIRT1545614	hsa-miR-139-5p	CLIP-seq
MIRT808539	hsa-miR-193a-3p	CLIP-seq
MIRT808540	hsa-miR-193b	CLIP-seq
MIRT2177977	hsa-miR-194	CLIP-seq
MIRT2177978	hsa-miR-200b	CLIP-seq
MIRT2177979	hsa-miR-200c	CLIP-seq
MIRT2177980	hsa-miR-212	CLIP-seq
MIRT808542	hsa-miR-24	CLIP-seq
MIRT808547	hsa-miR-3122	CLIP-seq
MIRT808549	hsa-miR-3132	CLIP-seq
MIRT808550	hsa-miR-3135	CLIP-seq
MIRT808552	hsa-miR-3157-5p	CLIP-seq
MIRT808553	hsa-miR-3165	CLIP-seq
MIRT808554	hsa-miR-3176	CLIP-seq
MIRT2177981	hsa-miR-3187-3p	CLIP-seq
MIRT808555	hsa-miR-3189-3p	CLIP-seq
MIRT808557	hsa-miR-3622a-3p	CLIP-seq
MIRT808558	hsa-miR-3622b-3p	CLIP-seq
MIRT1938843	hsa-miR-3622b-5p	CLIP-seq
MIRT808561	hsa-miR-3665	CLIP-seq
MIRT2177982	hsa-miR-3672	CLIP-seq
MIRT808563	hsa-miR-3689a-3p	CLIP-seq
MIRT808564	hsa-miR-3689c	CLIP-seq
MIRT808570	hsa-miR-3913-5p	CLIP-seq
MIRT808572	hsa-miR-3922-3p	CLIP-seq
MIRT2177983	hsa-miR-3929	CLIP-seq
MIRT2177984	hsa-miR-3973	CLIP-seq
MIRT808575	hsa-miR-3975	CLIP-seq
MIRT2177985	hsa-miR-425	CLIP-seq
MIRT2177986	hsa-miR-429	CLIP-seq
MIRT1545615	hsa-miR-4310	CLIP-seq
MIRT2177987	hsa-miR-4315	CLIP-seq
MIRT2177988	hsa-miR-4329	CLIP-seq
MIRT2177989	hsa-miR-4419b	CLIP-seq
MIRT2177990	hsa-miR-4420	CLIP-seq
MIRT808579	hsa-miR-4433	CLIP-seq
MIRT2177991	hsa-miR-4435	CLIP-seq
MIRT1545616	hsa-miR-4477b	CLIP-seq
MIRT2177992	hsa-miR-4478	CLIP-seq
MIRT2177993	hsa-miR-4645-5p	CLIP-seq
MIRT2177994	hsa-miR-4646-3p	CLIP-seq
MIRT808586	hsa-miR-4666-3p	CLIP-seq
MIRT2177995	hsa-miR-4670-3p	CLIP-seq
MIRT2177996	hsa-miR-4673	CLIP-seq
MIRT2177997	hsa-miR-4701-5p	CLIP-seq
MIRT1545617	hsa-miR-4704-3p	CLIP-seq
MIRT808590	hsa-miR-4728-5p	CLIP-seq
MIRT808591	hsa-miR-4736	CLIP-seq
MIRT808592	hsa-miR-4761-5p	CLIP-seq
MIRT2177998	hsa-miR-4766-3p	CLIP-seq
MIRT2177999	hsa-miR-4766-5p	CLIP-seq
MIRT1938851	hsa-miR-4796-5p	CLIP-seq
MIRT808593	hsa-miR-4797-5p	CLIP-seq
MIRT2178000	hsa-miR-485-5p	CLIP-seq
MIRT808595	hsa-miR-487a	CLIP-seq
MIRT2178001	hsa-miR-488	CLIP-seq
MIRT2178002	hsa-miR-520g	CLIP-seq
MIRT2178003	hsa-miR-520h	CLIP-seq
MIRT808600	hsa-miR-542-3p	CLIP-seq
MIRT808601	hsa-miR-544b	CLIP-seq
MIRT2178004	hsa-miR-548a-5p	CLIP-seq
MIRT2178005	hsa-miR-548ab	CLIP-seq
MIRT2178006	hsa-miR-548ak	CLIP-seq
MIRT2178007	hsa-miR-548b-5p	CLIP-seq
MIRT2178008	hsa-miR-548c-5p	CLIP-seq
MIRT2178009	hsa-miR-548d-5p	CLIP-seq
MIRT2178010	hsa-miR-548h	CLIP-seq
MIRT2178011	hsa-miR-548i	CLIP-seq
MIRT2178012	hsa-miR-548j	CLIP-seq
MIRT2178013	hsa-miR-548p	CLIP-seq
MIRT2178014	hsa-miR-548w	CLIP-seq
MIRT2178015	hsa-miR-548y	CLIP-seq
MIRT808606	hsa-miR-555	CLIP-seq
MIRT2178016	hsa-miR-559	CLIP-seq
MIRT2178017	hsa-miR-588	CLIP-seq
MIRT2178018	hsa-miR-616	CLIP-seq
MIRT2178019	hsa-miR-622	CLIP-seq
MIRT1545618	hsa-miR-629	CLIP-seq
MIRT808608	hsa-miR-759	CLIP-seq
MIRT2178020	hsa-miR-769-5p	CLIP-seq
MIRT2178021	hsa-miR-935	CLIP-seq
MIRT808609	hsa-miR-940	CLIP-seq
MIRT808549	hsa-miR-3132	CLIP-seq
MIRT808557	hsa-miR-3622a-3p	CLIP-seq
MIRT808558	hsa-miR-3622b-3p	CLIP-seq
MIRT808592	hsa-miR-4761-5p	CLIP-seq
MIRT2444400	hsa-miR-10a	CLIP-seq
MIRT2444401	hsa-miR-10b	CLIP-seq
MIRT1938836	hsa-miR-1321	CLIP-seq
MIRT1938841	hsa-miR-3162-5p	CLIP-seq
MIRT2444402	hsa-miR-339-5p	CLIP-seq
MIRT2444403	hsa-miR-4421	CLIP-seq
MIRT808587	hsa-miR-4684-5p	CLIP-seq
MIRT1938848	hsa-miR-4739	CLIP-seq
MIRT1938849	hsa-miR-4756-5p	CLIP-seq
MIRT2444404	hsa-miR-548c-3p	CLIP-seq
MIRT2444405	hsa-miR-593	CLIP-seq
MIRT2464892	hsa-miR-3921	CLIP-seq
MIRT2464893	hsa-miR-4251	CLIP-seq
MIRT2177988	hsa-miR-4329	CLIP-seq
MIRT2464894	hsa-miR-4653-5p	CLIP-seq
MIRT2464895	hsa-miR-4714-5p	CLIP-seq
MIRT2464896	hsa-miR-634	CLIP-seq
MIRT2178020	hsa-miR-769-5p	CLIP-seq
MIRT2444400	hsa-miR-10a	CLIP-seq
MIRT2444401	hsa-miR-10b	CLIP-seq
MIRT1938836	hsa-miR-1321	CLIP-seq
MIRT808546	hsa-miR-2964a-3p	CLIP-seq
MIRT2481623	hsa-miR-3120-3p	CLIP-seq
MIRT808547	hsa-miR-3122	CLIP-seq
MIRT808549	hsa-miR-3132	CLIP-seq
MIRT1938841	hsa-miR-3162-5p	CLIP-seq
MIRT2444402	hsa-miR-339-5p	CLIP-seq
MIRT808557	hsa-miR-3622a-3p	CLIP-seq
MIRT808558	hsa-miR-3622b-3p	CLIP-seq
MIRT808563	hsa-miR-3689a-3p	CLIP-seq
MIRT808564	hsa-miR-3689c	CLIP-seq
MIRT808566	hsa-miR-371-5p	CLIP-seq
MIRT808567	hsa-miR-371b-5p	CLIP-seq
MIRT808570	hsa-miR-3913-5p	CLIP-seq
MIRT2464892	hsa-miR-3921	CLIP-seq
MIRT2177983	hsa-miR-3929	CLIP-seq
MIRT2464893	hsa-miR-4251	CLIP-seq
MIRT2177988	hsa-miR-4329	CLIP-seq
MIRT2177989	hsa-miR-4419b	CLIP-seq
MIRT2444403	hsa-miR-4421	CLIP-seq
MIRT808579	hsa-miR-4433	CLIP-seq
MIRT2177992	hsa-miR-4478	CLIP-seq
MIRT2481624	hsa-miR-451b	CLIP-seq
MIRT2464894	hsa-miR-4653-5p	CLIP-seq
MIRT808587	hsa-miR-4684-5p	CLIP-seq
MIRT2481625	hsa-miR-4696	CLIP-seq
MIRT2464895	hsa-miR-4714-5p	CLIP-seq
MIRT808590	hsa-miR-4728-5p	CLIP-seq
MIRT1938848	hsa-miR-4739	CLIP-seq
MIRT1938849	hsa-miR-4756-5p	CLIP-seq
MIRT808592	hsa-miR-4761-5p	CLIP-seq
MIRT2178000	hsa-miR-485-5p	CLIP-seq
MIRT808601	hsa-miR-544b	CLIP-seq
MIRT2444404	hsa-miR-548c-3p	CLIP-seq
MIRT2444405	hsa-miR-593	CLIP-seq
MIRT2464896	hsa-miR-634	CLIP-seq
MIRT2481626	hsa-miR-642b	CLIP-seq
MIRT2178020	hsa-miR-769-5p	CLIP-seq
MIRT2178021	hsa-miR-935	CLIP-seq
MIRT2444400	hsa-miR-10a	CLIP-seq
MIRT2444401	hsa-miR-10b	CLIP-seq
MIRT2177973	hsa-miR-1207-3p	CLIP-seq
MIRT2675729	hsa-miR-203	CLIP-seq
MIRT808547	hsa-miR-3122	CLIP-seq
MIRT808549	hsa-miR-3132	CLIP-seq
MIRT2444402	hsa-miR-339-5p	CLIP-seq
MIRT808557	hsa-miR-3622a-3p	CLIP-seq
MIRT808558	hsa-miR-3622b-3p	CLIP-seq
MIRT2177982	hsa-miR-3672	CLIP-seq
MIRT808563	hsa-miR-3689a-3p	CLIP-seq
MIRT808564	hsa-miR-3689c	CLIP-seq
MIRT808570	hsa-miR-3913-5p	CLIP-seq
MIRT2464892	hsa-miR-3921	CLIP-seq
MIRT2177983	hsa-miR-3929	CLIP-seq
MIRT2464893	hsa-miR-4251	CLIP-seq
MIRT2177988	hsa-miR-4329	CLIP-seq
MIRT2177989	hsa-miR-4419b	CLIP-seq
MIRT2444403	hsa-miR-4421	CLIP-seq
MIRT808579	hsa-miR-4433	CLIP-seq
MIRT2177992	hsa-miR-4478	CLIP-seq
MIRT2464894	hsa-miR-4653-5p	CLIP-seq
MIRT808587	hsa-miR-4684-5p	CLIP-seq
MIRT2675730	hsa-miR-4691-3p	CLIP-seq
MIRT2464895	hsa-miR-4714-5p	CLIP-seq
MIRT808590	hsa-miR-4728-5p	CLIP-seq
MIRT808592	hsa-miR-4761-5p	CLIP-seq
MIRT2178000	hsa-miR-485-5p	CLIP-seq
MIRT808601	hsa-miR-544b	CLIP-seq
MIRT2444404	hsa-miR-548c-3p	CLIP-seq
MIRT2444405	hsa-miR-593	CLIP-seq
MIRT2464896	hsa-miR-634	CLIP-seq
MIRT2178020	hsa-miR-769-5p	CLIP-seq
MIRT2178021	hsa-miR-935	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TEAD1	Activation	15878913

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000220	Component	Vacuolar proton-transporting V-type ATPase, V0 domain	IEA
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0005515	Function	Protein binding	IPI	16415858
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0006879	Process	Cellular iron ion homeostasis	IMP	28296633
GO:0006955	Process	Immune response	TAS	2247090
GO:0007035	Process	Vacuolar acidification	IBA	21873635
GO:0008286	Process	Insulin receptor signaling pathway	TAS
GO:0010008	Component	Endosome membrane	TAS
GO:0016021	Component	Integral component of membrane	IEA
GO:0016241	Process	Regulation of macroautophagy	NAS	22982048
GO:0016471	Component	Vacuolar proton-transporting V-type ATPase complex	IBA	21873635
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0033572	Process	Transferrin transport	TAS
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0036295	Process	Cellular response to increased oxygen levels	IMP	28296633
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IBA	21873635
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051117	Function	ATPase binding	IBA	21873635
GO:0090383	Process	Phagosome acidification	TAS
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 611716
• HGNC: 18481
• e!Ensembl: ENSG00000185344

Protein

• UniProt ID: Q9Y487
• Protein name: V-type proton ATPase 116 kDa subunit a 2 (V-ATPase 116 kDa subunit a 2) (Lysosomal H(+)-transporting ATPase V0 subunit a 2) (TJ6) (Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2)
• Protein function: Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01496	V_ATPase_I	27 → 842	V-type ATPase 116kDa subunit family	Family

• Sequence:

  MGSLFRSETMCLAQLFLQSGTAYECLSALGEKGLVQFRDLNQNVSSFQRKFVGEVKRCEE
  LERILVYLVQEINRADIPLPEGEASPPAPPLKQVLEMQEQLQKLEVELREVTKNKEKLRK
  NLLELIEYTHMLRVTKTFVKRNVEFEPTYEEFPSLESDSLLDYSCMQRLGAKLGFVSGLI
  NQGKVEAFEKMLWRVCKGYTIVSYAELDESLEDPETGEVIKWYVFLISFWGEQIGHKVKK
  ICDCYHCHVYPYPNTAEERREIQEGLNTRIQDLYTVLHKTEDYLRQVLCKAAESVYSRVI
  QVKKMKAIYHMLNMCSFDVTNKCLIAEVWCPEADLQDLRRALEEGSRESGATIPSFMNII
  PTKETPPTRIRTNKFTEGFQNIVDAYGVGSYREVNPALFTIITFPFLFAVMFGDFGHGFV
  MFLFALLLVLNENHPRLNQSQEIMRMFFNGRYILLLMGLFSVYTGLIYNDCFSKSVNLFG
  SGWNVSAMYSSSHPPAEHKKMVLWNDSVVRHNSILQLDPSIPGVFRGPYPLGIDPIWNLA
  TNRLTFLNSFKMKMSVILGIIHMTFGVILGIFNHLHFRKKFNIYLVSIPELLFMLCIFGY
  LIFMIFYKWLVFSAETSRVAPSILIEFINMFLFPASKTSGLYTGQEYVQRVLLVVTALSV
  PVLFLGKPLFLLWLHNGRSCFGVNRSGYTLIRKDSEEEVSLLGSQDIEEGNHQVEDGCRE
  MACEEFNFGEILMTQVIHSIEYCLGCISNTASYLRLWALSLAHAQLSDVLWAMLMRVGLR
  VDTTYGVLLLLPVIALFAVLTIFILLIMEGLSAFLHAIRLHWVEFQNKFYVGAGTKFVPF
  SFSLLSSKFNNDDSVA

• Sequence length: 856

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Lysosome
Phagosome
Synaptic vesicle cycle
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Tuberculosis
Human papillomavirus infection
Rheumatoid arthritis

Reactome:

ROS and RNS production in phagocytes
Insulin receptor recycling
Transferrin endocytosis and recycling
Ion channel transport

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Congenital disorder of glycosylation	Congenital disorder of glycosylation type 1L	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406, rs387907202, rs387907203, rs397515327, rs398124348, rs374928784, rs398124401, rs587777114, rs587777115, rs587777116, rs752922461, rs794727073, rs797044712, rs765191836, rs376663459, rs778210210, rs864309659, rs869025583, rs751325113, rs369160589, rs1085307116, rs1085307117, rs746019074, rs1135401817, rs773281248, rs1555575860, rs753780084, rs1553121545, rs764831063, rs1185483085, rs867045420, rs1554464495, rs1460811017, rs1297536872, rs1555388034, rs1334593208, rs1555493029, rs1555497604, rs1031719032, rs768656482, rs937887233, rs1272097668, rs1569508922, rs1048764460, rs373260156, rs1569547876, rs1563018529, rs777937112, rs1231928102, rs1584977236, rs1582461023, rs1422285851, rs139624629, rs1597225261, rs763516132, rs200605408, rs1596252105, rs1596252196, rs121908340, rs1596256204, rs553396382, rs1180515976, rs1299775990, rs1596261161, rs1596261208, rs1428414601, rs1596261268, rs16835020, rs1270276368, rs373355236, rs1582477100, rs747606976, rs2049726544, rs781115721, rs1926621737, rs1444255127, rs1663960324, rs1665467473, rs1431963909, rs1663959543, rs376870425	19321599
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Cutis laxa	Cutis Laxa, Cutis Laxa, Autosomal Recessive, Type IIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID, Autosomal recessive cutis laxa type 2, classic type	rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811, rs80356756, rs367543007, rs80356751, rs80356753, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866, rs1566294545, rs397514683, rs794729201, rs752669339, rs863225044, rs863225045, rs886039351, rs745590426, rs144346996, rs1060505031, rs1028534806, rs1060505037, rs139751598, rs762218403, rs755867227, rs1555042727, rs888015688, rs1591064775, rs1598358440, rs752297179, rs1180294322	22773132, 18157129, 19321599, 22829427, 19321599, 18157129, 18157129, 19321599
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
Lipodystrophy	Lipodystrophy	rs553668, rs766817317
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
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Myopia	Myopia, Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Wrinkly skin syndrome	Wrinkly skin syndrome	rs80356751	22773132, 18157129, 27604308

Unknown
Disease name	Disease term	dbSNP ID	References
Acquired kyphoscoliosis	Acquired Kyphoscoliosis
Cerebellar hypoplasia	Cerebellar Hypoplasia
Congenital clubfoot	Congenital clubfoot
Developmental dysplasia of the hip	Congenital Dysplasia Of The Hip
Congenital epicanthus	Congenital Epicanthus
Congenital exomphalos	Congenital exomphalos
Congenital kyphoscoliosis	Congenital kyphoscoliosis
Congenital pectus excavatum	Congenital pectus excavatum
Dandy-walker syndrome	Dandy-Walker Syndrome
Dementia	Dementia
Dwarfism	Dwarfism
Frontal bossing	Frontal bossing
High palate	Byzanthine arch palate
Microdontia	Microdontia (disorder)
Microstomia	Microstomia
Motor delay	Clumsiness - motor delay
Osteopenia	Osteopenia
Pachygyria	Pachygyria
Status epilepticus	Status Epilepticus
Strabismus	Strabismus