SLC12A6 (solute carrier family 12 member 6)

Gene

• Entrez ID: 9990
• Gene name: Solute carrier family 12 member 6
• Gene symbol: SLC12A6
• Synonyms: ACCPN, CMT2II, KCC3, KCC3A, KCC3B
• Chromosome: 15
• Chromosome location: 15q14
• Summary: This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activa

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35583475	G>A,T	Likely-pathogenic, likely-benign, benign	Non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs121908427	G>A,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant, synonymous variant
rs121908428	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121908429	G>A	Uncertain-significance, pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs140916001	C>G	Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs149640638	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs186141509	T>C	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, intron variant
rs199747285	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs515726215	C>-	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, splice donor variant
rs515726216	AG>C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs515726217	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs515726218	GGGAAAGA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs573444140	C>A,G	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs606231157	T>-	Pathogenic, uncertain-significance	Non coding transcript variant, frameshift variant, coding sequence variant
rs606231158	GCATCTGGGA>-	Pathogenic, uncertain-significance	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs606231229	G>A	Uncertain-significance, likely-pathogenic	Stop gained, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs762730861	C>T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs768514327	G>A	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs775111365	->AC	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1057516262	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1057516271	C>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1057516337	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057516378	C>A,G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057516435	->A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057516456	G>A	Likely-pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1057516752	AGCTT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057516898	C>T	Likely-pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1057516925	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1057516969	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1057517109	G>-,GG	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057517289	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057517334	GCTGATATAT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057518713	->G	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1372841592	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1555376682	A>C	Likely-pathogenic	Splice donor variant, non coding transcript variant, genic downstream transcript variant
rs1555376688	C>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1555376818	->A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1555377252	C>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555377971	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1555378707	C>G	Likely-pathogenic	Splice acceptor variant
rs1555380716	->C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555380998	A>T	Likely-pathogenic	Splice donor variant
rs1555381538	A>C	Likely-pathogenic	Splice donor variant
rs1555384169	C>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1555384171	TGTGATGGAGTTCT>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1595442984	C>A	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT039459	hsa-miR-652-3p	CLASH	23622248
MIRT380515	hsa-miR-126-5p	HITS-CLIP	23313552
MIRT699474	hsa-miR-5689	HITS-CLIP	23313552
MIRT699473	hsa-miR-4795-3p	HITS-CLIP	23313552
MIRT385812	hsa-miR-888-5p	HITS-CLIP	23824327
MIRT380515	hsa-miR-126-5p	HITS-CLIP	23313552
MIRT699474	hsa-miR-5689	HITS-CLIP	23313552
MIRT699473	hsa-miR-4795-3p	HITS-CLIP	23313552
MIRT385812	hsa-miR-888-5p	HITS-CLIP	23824327
MIRT1352103	hsa-miR-105	CLIP-seq
MIRT1352104	hsa-miR-1281	CLIP-seq
MIRT1352105	hsa-miR-1343	CLIP-seq
MIRT1352106	hsa-miR-1827	CLIP-seq
MIRT1352107	hsa-miR-2467-3p	CLIP-seq
MIRT1352108	hsa-miR-3122	CLIP-seq
MIRT1352109	hsa-miR-3612	CLIP-seq
MIRT1352110	hsa-miR-3622a-3p	CLIP-seq
MIRT1352111	hsa-miR-3622b-3p	CLIP-seq
MIRT1352112	hsa-miR-3671	CLIP-seq
MIRT1352113	hsa-miR-3689a-3p	CLIP-seq
MIRT1352114	hsa-miR-3689c	CLIP-seq
MIRT1352115	hsa-miR-3913-5p	CLIP-seq
MIRT1352116	hsa-miR-3929	CLIP-seq
MIRT1352117	hsa-miR-4419b	CLIP-seq
MIRT1352118	hsa-miR-4459	CLIP-seq
MIRT1352119	hsa-miR-4478	CLIP-seq
MIRT1352120	hsa-miR-4649-3p	CLIP-seq
MIRT1352121	hsa-miR-4695-5p	CLIP-seq
MIRT1352122	hsa-miR-4722-5p	CLIP-seq
MIRT1352123	hsa-miR-4728-5p	CLIP-seq
MIRT1352124	hsa-miR-4767	CLIP-seq
MIRT1352125	hsa-miR-4768-3p	CLIP-seq
MIRT1352126	hsa-miR-485-5p	CLIP-seq
MIRT1352127	hsa-miR-607	CLIP-seq
MIRT1352128	hsa-miR-650	CLIP-seq
MIRT1352129	hsa-miR-665	CLIP-seq
MIRT1352130	hsa-miR-940	CLIP-seq
MIRT1352103	hsa-miR-105	CLIP-seq
MIRT1352131	hsa-miR-1265	CLIP-seq
MIRT1352104	hsa-miR-1281	CLIP-seq
MIRT1352105	hsa-miR-1343	CLIP-seq
MIRT1352132	hsa-miR-145	CLIP-seq
MIRT1352133	hsa-miR-149	CLIP-seq
MIRT1352134	hsa-miR-1825	CLIP-seq
MIRT1352135	hsa-miR-1976	CLIP-seq
MIRT1352136	hsa-miR-199a-5p	CLIP-seq
MIRT1352137	hsa-miR-199b-5p	CLIP-seq
MIRT1352138	hsa-miR-24	CLIP-seq
MIRT1352108	hsa-miR-3122	CLIP-seq
MIRT1352139	hsa-miR-3127-5p	CLIP-seq
MIRT1352140	hsa-miR-3160-5p	CLIP-seq
MIRT1352141	hsa-miR-3180-5p	CLIP-seq
MIRT1352142	hsa-miR-3187-3p	CLIP-seq
MIRT1352110	hsa-miR-3622a-3p	CLIP-seq
MIRT1352111	hsa-miR-3622b-3p	CLIP-seq
MIRT1352143	hsa-miR-3650	CLIP-seq
MIRT1352112	hsa-miR-3671	CLIP-seq
MIRT1352144	hsa-miR-3685	CLIP-seq
MIRT1352113	hsa-miR-3689a-3p	CLIP-seq
MIRT1352114	hsa-miR-3689c	CLIP-seq
MIRT1352145	hsa-miR-375	CLIP-seq
MIRT1352146	hsa-miR-384	CLIP-seq
MIRT1352115	hsa-miR-3913-5p	CLIP-seq
MIRT1352147	hsa-miR-4270	CLIP-seq
MIRT1352148	hsa-miR-4284	CLIP-seq
MIRT1352149	hsa-miR-4326	CLIP-seq
MIRT1352150	hsa-miR-4328	CLIP-seq
MIRT1352151	hsa-miR-4426	CLIP-seq
MIRT1352152	hsa-miR-4435	CLIP-seq
MIRT1352153	hsa-miR-4441	CLIP-seq
MIRT1352154	hsa-miR-4455	CLIP-seq
MIRT1352155	hsa-miR-4533	CLIP-seq
MIRT1352156	hsa-miR-4647	CLIP-seq
MIRT1352157	hsa-miR-4662a-5p	CLIP-seq
MIRT1352158	hsa-miR-4662b	CLIP-seq
MIRT1352159	hsa-miR-4676-5p	CLIP-seq
MIRT1352160	hsa-miR-4701-5p	CLIP-seq
MIRT1352161	hsa-miR-4712-5p	CLIP-seq
MIRT1352123	hsa-miR-4728-5p	CLIP-seq
MIRT1352162	hsa-miR-4747-5p	CLIP-seq
MIRT1352124	hsa-miR-4767	CLIP-seq
MIRT1352163	hsa-miR-4772-3p	CLIP-seq
MIRT1352164	hsa-miR-520f	CLIP-seq
MIRT1352165	hsa-miR-544b	CLIP-seq
MIRT1352166	hsa-miR-548s	CLIP-seq
MIRT1352167	hsa-miR-575	CLIP-seq
MIRT1352168	hsa-miR-588	CLIP-seq
MIRT1352127	hsa-miR-607	CLIP-seq
MIRT1352169	hsa-miR-770-5p	CLIP-seq
MIRT1352170	hsa-miR-122	CLIP-seq
MIRT1352171	hsa-miR-1252	CLIP-seq
MIRT1352172	hsa-miR-1270	CLIP-seq
MIRT1352173	hsa-miR-128	CLIP-seq
MIRT1352174	hsa-miR-143	CLIP-seq
MIRT1352175	hsa-miR-146a	CLIP-seq
MIRT1352176	hsa-miR-146b-5p	CLIP-seq
MIRT1352106	hsa-miR-1827	CLIP-seq
MIRT1352138	hsa-miR-24	CLIP-seq
MIRT1352107	hsa-miR-2467-3p	CLIP-seq
MIRT1352108	hsa-miR-3122	CLIP-seq
MIRT1352177	hsa-miR-3135b	CLIP-seq
MIRT1352178	hsa-miR-3148	CLIP-seq
MIRT1352142	hsa-miR-3187-3p	CLIP-seq
MIRT1352109	hsa-miR-3612	CLIP-seq
MIRT1352110	hsa-miR-3622a-3p	CLIP-seq
MIRT1352111	hsa-miR-3622b-3p	CLIP-seq
MIRT1352143	hsa-miR-3650	CLIP-seq
MIRT1352179	hsa-miR-3652	CLIP-seq
MIRT1352144	hsa-miR-3685	CLIP-seq
MIRT1352180	hsa-miR-3688-3p	CLIP-seq
MIRT1352113	hsa-miR-3689a-3p	CLIP-seq
MIRT1352114	hsa-miR-3689c	CLIP-seq
MIRT1352145	hsa-miR-375	CLIP-seq
MIRT1352146	hsa-miR-384	CLIP-seq
MIRT1352115	hsa-miR-3913-5p	CLIP-seq
MIRT1352181	hsa-miR-3914	CLIP-seq
MIRT1352116	hsa-miR-3929	CLIP-seq
MIRT1352182	hsa-miR-4257	CLIP-seq
MIRT1352183	hsa-miR-4273	CLIP-seq
MIRT1352148	hsa-miR-4284	CLIP-seq
MIRT1352184	hsa-miR-4287	CLIP-seq
MIRT1352185	hsa-miR-4311	CLIP-seq
MIRT1352149	hsa-miR-4326	CLIP-seq
MIRT1352150	hsa-miR-4328	CLIP-seq
MIRT1352117	hsa-miR-4419b	CLIP-seq
MIRT1352186	hsa-miR-4430	CLIP-seq
MIRT1352152	hsa-miR-4435	CLIP-seq
MIRT1352154	hsa-miR-4455	CLIP-seq
MIRT1352118	hsa-miR-4459	CLIP-seq
MIRT1352187	hsa-miR-4469	CLIP-seq
MIRT1352119	hsa-miR-4478	CLIP-seq
MIRT1352188	hsa-miR-4531	CLIP-seq
MIRT1352120	hsa-miR-4649-3p	CLIP-seq
MIRT1352159	hsa-miR-4676-5p	CLIP-seq
MIRT1352189	hsa-miR-4677-5p	CLIP-seq
MIRT1352190	hsa-miR-4685-3p	CLIP-seq
MIRT1352121	hsa-miR-4695-5p	CLIP-seq
MIRT1352160	hsa-miR-4701-5p	CLIP-seq
MIRT1352191	hsa-miR-4712-3p	CLIP-seq
MIRT1352122	hsa-miR-4722-5p	CLIP-seq
MIRT1352123	hsa-miR-4728-5p	CLIP-seq
MIRT1352192	hsa-miR-4746-3p	CLIP-seq
MIRT1352124	hsa-miR-4767	CLIP-seq
MIRT1352125	hsa-miR-4768-3p	CLIP-seq
MIRT1352193	hsa-miR-4770	CLIP-seq
MIRT1352194	hsa-miR-4792	CLIP-seq
MIRT1352195	hsa-miR-4802-3p	CLIP-seq
MIRT1352126	hsa-miR-485-5p	CLIP-seq
MIRT1352196	hsa-miR-490-3p	CLIP-seq
MIRT1352166	hsa-miR-548s	CLIP-seq
MIRT1352197	hsa-miR-563	CLIP-seq
MIRT1352167	hsa-miR-575	CLIP-seq
MIRT1352198	hsa-miR-580	CLIP-seq
MIRT1352168	hsa-miR-588	CLIP-seq
MIRT1352199	hsa-miR-589	CLIP-seq
MIRT1352200	hsa-miR-620	CLIP-seq
MIRT1352201	hsa-miR-642a	CLIP-seq
MIRT1352128	hsa-miR-650	CLIP-seq
MIRT1352129	hsa-miR-665	CLIP-seq
MIRT1352130	hsa-miR-940	CLIP-seq
MIRT1553711	hsa-miR-4652-3p	CLIP-seq
MIRT1553712	hsa-miR-3714	CLIP-seq
MIRT1352154	hsa-miR-4455	CLIP-seq
MIRT1553713	hsa-miR-609	CLIP-seq
MIRT1352170	hsa-miR-122	CLIP-seq
MIRT2104318	hsa-miR-1261	CLIP-seq
MIRT2104319	hsa-miR-1273f	CLIP-seq
MIRT2104320	hsa-miR-1275	CLIP-seq
MIRT2104321	hsa-miR-1289	CLIP-seq
MIRT1352174	hsa-miR-143	CLIP-seq
MIRT2104322	hsa-miR-144	CLIP-seq
MIRT2104323	hsa-miR-150	CLIP-seq
MIRT1352106	hsa-miR-1827	CLIP-seq
MIRT2104324	hsa-miR-2054	CLIP-seq
MIRT2104325	hsa-miR-2276	CLIP-seq
MIRT1352108	hsa-miR-3122	CLIP-seq
MIRT1352177	hsa-miR-3135b	CLIP-seq
MIRT2104326	hsa-miR-3145-3p	CLIP-seq
MIRT2104327	hsa-miR-3198	CLIP-seq
MIRT2104328	hsa-miR-3201	CLIP-seq
MIRT1352109	hsa-miR-3612	CLIP-seq
MIRT1352110	hsa-miR-3622a-3p	CLIP-seq
MIRT1352111	hsa-miR-3622b-3p	CLIP-seq
MIRT1352179	hsa-miR-3652	CLIP-seq
MIRT1352113	hsa-miR-3689a-3p	CLIP-seq
MIRT1352114	hsa-miR-3689c	CLIP-seq
MIRT1352115	hsa-miR-3913-5p	CLIP-seq
MIRT1352116	hsa-miR-3929	CLIP-seq
MIRT2104329	hsa-miR-4260	CLIP-seq
MIRT2104330	hsa-miR-4267	CLIP-seq
MIRT1352184	hsa-miR-4287	CLIP-seq
MIRT2104331	hsa-miR-4294	CLIP-seq
MIRT2104332	hsa-miR-4309	CLIP-seq
MIRT1352117	hsa-miR-4419b	CLIP-seq
MIRT2104333	hsa-miR-4420	CLIP-seq
MIRT2104334	hsa-miR-4425	CLIP-seq
MIRT1352186	hsa-miR-4430	CLIP-seq
MIRT1352118	hsa-miR-4459	CLIP-seq
MIRT1352187	hsa-miR-4469	CLIP-seq
MIRT1352119	hsa-miR-4478	CLIP-seq
MIRT2104335	hsa-miR-4490	CLIP-seq
MIRT2104336	hsa-miR-4525	CLIP-seq
MIRT2104337	hsa-miR-4534	CLIP-seq
MIRT1352120	hsa-miR-4649-3p	CLIP-seq
MIRT2104338	hsa-miR-4665-5p	CLIP-seq
MIRT1352190	hsa-miR-4685-3p	CLIP-seq
MIRT1352121	hsa-miR-4695-5p	CLIP-seq
MIRT2104339	hsa-miR-4708-5p	CLIP-seq
MIRT1352122	hsa-miR-4722-5p	CLIP-seq
MIRT1352123	hsa-miR-4728-5p	CLIP-seq
MIRT1352124	hsa-miR-4767	CLIP-seq
MIRT1352125	hsa-miR-4768-3p	CLIP-seq
MIRT1352193	hsa-miR-4770	CLIP-seq
MIRT2104340	hsa-miR-4774-5p	CLIP-seq
MIRT2104341	hsa-miR-4791	CLIP-seq
MIRT1352126	hsa-miR-485-5p	CLIP-seq
MIRT1352201	hsa-miR-642a	CLIP-seq
MIRT2104342	hsa-miR-642b	CLIP-seq
MIRT1352128	hsa-miR-650	CLIP-seq
MIRT1352129	hsa-miR-665	CLIP-seq
MIRT1352130	hsa-miR-940	CLIP-seq
MIRT1352120	hsa-miR-4649-3p	CLIP-seq
MIRT2104343	hsa-miR-4768-5p	CLIP-seq
MIRT1352130	hsa-miR-940	CLIP-seq
MIRT2328628	hsa-miR-106a	CLIP-seq
MIRT2328629	hsa-miR-106b	CLIP-seq
MIRT2328630	hsa-miR-1193	CLIP-seq
MIRT1352170	hsa-miR-122	CLIP-seq
MIRT2328631	hsa-miR-1234	CLIP-seq
MIRT2104318	hsa-miR-1261	CLIP-seq
MIRT2104321	hsa-miR-1289	CLIP-seq
MIRT2328632	hsa-miR-1304	CLIP-seq
MIRT2328633	hsa-miR-132	CLIP-seq
MIRT2104322	hsa-miR-144	CLIP-seq
MIRT1352175	hsa-miR-146a	CLIP-seq
MIRT1352176	hsa-miR-146b-5p	CLIP-seq
MIRT2104323	hsa-miR-150	CLIP-seq
MIRT2328634	hsa-miR-17	CLIP-seq
MIRT1352106	hsa-miR-1827	CLIP-seq
MIRT2328635	hsa-miR-1912	CLIP-seq
MIRT2328636	hsa-miR-194	CLIP-seq
MIRT2104324	hsa-miR-2054	CLIP-seq
MIRT2328637	hsa-miR-20a	CLIP-seq
MIRT2328638	hsa-miR-20b	CLIP-seq
MIRT2328639	hsa-miR-2113	CLIP-seq
MIRT2328640	hsa-miR-212	CLIP-seq
MIRT2104325	hsa-miR-2276	CLIP-seq
MIRT2328641	hsa-miR-2392	CLIP-seq
MIRT1352138	hsa-miR-24	CLIP-seq
MIRT1352107	hsa-miR-2467-3p	CLIP-seq
MIRT2328642	hsa-miR-2467-5p	CLIP-seq
MIRT2328643	hsa-miR-302a	CLIP-seq
MIRT2328644	hsa-miR-302b	CLIP-seq
MIRT2328645	hsa-miR-302c	CLIP-seq
MIRT2328646	hsa-miR-302d	CLIP-seq
MIRT1352108	hsa-miR-3122	CLIP-seq
MIRT2328647	hsa-miR-3130-5p	CLIP-seq
MIRT1352177	hsa-miR-3135b	CLIP-seq
MIRT2104326	hsa-miR-3145-3p	CLIP-seq
MIRT2328648	hsa-miR-3149	CLIP-seq
MIRT2328649	hsa-miR-3188	CLIP-seq
MIRT2104327	hsa-miR-3198	CLIP-seq
MIRT2328650	hsa-miR-3199	CLIP-seq
MIRT2104328	hsa-miR-3201	CLIP-seq
MIRT1352109	hsa-miR-3612	CLIP-seq
MIRT1352110	hsa-miR-3622a-3p	CLIP-seq
MIRT1352111	hsa-miR-3622b-3p	CLIP-seq
MIRT2328651	hsa-miR-3651	CLIP-seq
MIRT1352179	hsa-miR-3652	CLIP-seq
MIRT2328652	hsa-miR-3678-3p	CLIP-seq
MIRT1352113	hsa-miR-3689a-3p	CLIP-seq
MIRT1352114	hsa-miR-3689c	CLIP-seq
MIRT2328653	hsa-miR-372	CLIP-seq
MIRT2328654	hsa-miR-373	CLIP-seq
MIRT1352115	hsa-miR-3913-5p	CLIP-seq
MIRT1352116	hsa-miR-3929	CLIP-seq
MIRT2328655	hsa-miR-3934	CLIP-seq
MIRT2328656	hsa-miR-3941	CLIP-seq
MIRT2328657	hsa-miR-3943	CLIP-seq
MIRT2328658	hsa-miR-3975	CLIP-seq
MIRT1352182	hsa-miR-4257	CLIP-seq
MIRT2328659	hsa-miR-4258	CLIP-seq
MIRT2104330	hsa-miR-4267	CLIP-seq
MIRT1352184	hsa-miR-4287	CLIP-seq
MIRT2328660	hsa-miR-4293	CLIP-seq
MIRT2104331	hsa-miR-4294	CLIP-seq
MIRT2104332	hsa-miR-4309	CLIP-seq
MIRT2328661	hsa-miR-4312	CLIP-seq
MIRT2328662	hsa-miR-4323	CLIP-seq
MIRT1352117	hsa-miR-4419b	CLIP-seq
MIRT2104333	hsa-miR-4420	CLIP-seq
MIRT2104334	hsa-miR-4425	CLIP-seq
MIRT1352186	hsa-miR-4430	CLIP-seq
MIRT1352154	hsa-miR-4455	CLIP-seq
MIRT1352118	hsa-miR-4459	CLIP-seq
MIRT1352187	hsa-miR-4469	CLIP-seq
MIRT1352119	hsa-miR-4478	CLIP-seq
MIRT2328663	hsa-miR-4482	CLIP-seq
MIRT2104337	hsa-miR-4534	CLIP-seq
MIRT1352120	hsa-miR-4649-3p	CLIP-seq
MIRT1553711	hsa-miR-4652-3p	CLIP-seq
MIRT2328664	hsa-miR-466	CLIP-seq
MIRT2328665	hsa-miR-4672	CLIP-seq
MIRT1352190	hsa-miR-4685-3p	CLIP-seq
MIRT1352121	hsa-miR-4695-5p	CLIP-seq
MIRT2328666	hsa-miR-4713-3p	CLIP-seq
MIRT2328667	hsa-miR-4713-5p	CLIP-seq
MIRT2328668	hsa-miR-4716-5p	CLIP-seq
MIRT1352122	hsa-miR-4722-5p	CLIP-seq
MIRT1352123	hsa-miR-4728-5p	CLIP-seq
MIRT2328669	hsa-miR-4735-5p	CLIP-seq
MIRT1352192	hsa-miR-4746-3p	CLIP-seq
MIRT2328670	hsa-miR-4757-5p	CLIP-seq
MIRT1352124	hsa-miR-4767	CLIP-seq
MIRT1352125	hsa-miR-4768-3p	CLIP-seq
MIRT2328671	hsa-miR-4775	CLIP-seq
MIRT2328672	hsa-miR-4786-5p	CLIP-seq
MIRT2104341	hsa-miR-4791	CLIP-seq
MIRT1352194	hsa-miR-4792	CLIP-seq
MIRT1352126	hsa-miR-485-5p	CLIP-seq
MIRT2328673	hsa-miR-501-3p	CLIP-seq
MIRT2328674	hsa-miR-502-3p	CLIP-seq
MIRT2328675	hsa-miR-513a-5p	CLIP-seq
MIRT2328676	hsa-miR-519d	CLIP-seq
MIRT2328677	hsa-miR-520g	CLIP-seq
MIRT1352165	hsa-miR-544b	CLIP-seq
MIRT2328678	hsa-miR-552	CLIP-seq
MIRT2328679	hsa-miR-562	CLIP-seq
MIRT1352197	hsa-miR-563	CLIP-seq
MIRT1352198	hsa-miR-580	CLIP-seq
MIRT2328680	hsa-miR-587	CLIP-seq
MIRT1352199	hsa-miR-589	CLIP-seq
MIRT2328681	hsa-miR-590-3p	CLIP-seq
MIRT2328682	hsa-miR-599	CLIP-seq
MIRT1553713	hsa-miR-609	CLIP-seq
MIRT2328683	hsa-miR-625	CLIP-seq
MIRT1352201	hsa-miR-642a	CLIP-seq
MIRT2104342	hsa-miR-642b	CLIP-seq
MIRT1352128	hsa-miR-650	CLIP-seq
MIRT1352129	hsa-miR-665	CLIP-seq
MIRT2328684	hsa-miR-767-5p	CLIP-seq
MIRT2328685	hsa-miR-93	CLIP-seq
MIRT1352130	hsa-miR-940	CLIP-seq
MIRT1352107	hsa-miR-2467-3p	CLIP-seq
MIRT2394612	hsa-miR-4307	CLIP-seq
MIRT1352130	hsa-miR-940	CLIP-seq
MIRT1352108	hsa-miR-3122	CLIP-seq
MIRT1352113	hsa-miR-3689a-3p	CLIP-seq
MIRT1352114	hsa-miR-3689c	CLIP-seq
MIRT1352115	hsa-miR-3913-5p	CLIP-seq
MIRT1352123	hsa-miR-4728-5p	CLIP-seq
MIRT1352124	hsa-miR-4767	CLIP-seq
MIRT1352107	hsa-miR-2467-3p	CLIP-seq
MIRT1352107	hsa-miR-2467-3p	CLIP-seq
MIRT1352107	hsa-miR-2467-3p	CLIP-seq
MIRT2328628	hsa-miR-106a	CLIP-seq
MIRT2328629	hsa-miR-106b	CLIP-seq
MIRT1352170	hsa-miR-122	CLIP-seq
MIRT2328633	hsa-miR-132	CLIP-seq
MIRT2104323	hsa-miR-150	CLIP-seq
MIRT2328634	hsa-miR-17	CLIP-seq
MIRT2328636	hsa-miR-194	CLIP-seq
MIRT2690829	hsa-miR-199a-3p	CLIP-seq
MIRT2690830	hsa-miR-199b-3p	CLIP-seq
MIRT2328637	hsa-miR-20a	CLIP-seq
MIRT2328638	hsa-miR-20b	CLIP-seq
MIRT2328640	hsa-miR-212	CLIP-seq
MIRT2690831	hsa-miR-214	CLIP-seq
MIRT1352107	hsa-miR-2467-3p	CLIP-seq
MIRT2328643	hsa-miR-302a	CLIP-seq
MIRT2328644	hsa-miR-302b	CLIP-seq
MIRT2328645	hsa-miR-302c	CLIP-seq
MIRT2328646	hsa-miR-302d	CLIP-seq
MIRT1352108	hsa-miR-3122	CLIP-seq
MIRT2690832	hsa-miR-3123	CLIP-seq
MIRT2690833	hsa-miR-3126-3p	CLIP-seq
MIRT2690834	hsa-miR-3129-5p	CLIP-seq
MIRT1352177	hsa-miR-3135b	CLIP-seq
MIRT2690835	hsa-miR-3136-5p	CLIP-seq
MIRT2328648	hsa-miR-3149	CLIP-seq
MIRT2690836	hsa-miR-3176	CLIP-seq
MIRT2690837	hsa-miR-329	CLIP-seq
MIRT2690838	hsa-miR-3619-5p	CLIP-seq
MIRT1352110	hsa-miR-3622a-3p	CLIP-seq
MIRT1352111	hsa-miR-3622b-3p	CLIP-seq
MIRT2690839	hsa-miR-362-3p	CLIP-seq
MIRT2690840	hsa-miR-3647-3p	CLIP-seq
MIRT1352179	hsa-miR-3652	CLIP-seq
MIRT2690841	hsa-miR-3658	CLIP-seq
MIRT1352113	hsa-miR-3689a-3p	CLIP-seq
MIRT1352114	hsa-miR-3689c	CLIP-seq
MIRT1553712	hsa-miR-3714	CLIP-seq
MIRT2328653	hsa-miR-372	CLIP-seq
MIRT2328654	hsa-miR-373	CLIP-seq
MIRT1352115	hsa-miR-3913-5p	CLIP-seq
MIRT2690842	hsa-miR-3922-3p	CLIP-seq
MIRT2690843	hsa-miR-3925-5p	CLIP-seq
MIRT2328656	hsa-miR-3941	CLIP-seq
MIRT2690844	hsa-miR-4291	CLIP-seq
MIRT2690845	hsa-miR-4305	CLIP-seq
MIRT1352150	hsa-miR-4328	CLIP-seq
MIRT2104334	hsa-miR-4425	CLIP-seq
MIRT1352186	hsa-miR-4430	CLIP-seq
MIRT2690846	hsa-miR-4439	CLIP-seq
MIRT2690847	hsa-miR-4493	CLIP-seq
MIRT2690848	hsa-miR-450b-3p	CLIP-seq
MIRT2690849	hsa-miR-4643	CLIP-seq
MIRT2690850	hsa-miR-4662a-3p	CLIP-seq
MIRT2690851	hsa-miR-4684-5p	CLIP-seq
MIRT2328666	hsa-miR-4713-3p	CLIP-seq
MIRT2328668	hsa-miR-4716-5p	CLIP-seq
MIRT1352122	hsa-miR-4722-5p	CLIP-seq
MIRT2690852	hsa-miR-4724-5p	CLIP-seq
MIRT1352123	hsa-miR-4728-5p	CLIP-seq
MIRT2328669	hsa-miR-4735-5p	CLIP-seq
MIRT1352124	hsa-miR-4767	CLIP-seq
MIRT2328671	hsa-miR-4775	CLIP-seq
MIRT2328672	hsa-miR-4786-5p	CLIP-seq
MIRT2690853	hsa-miR-4789-3p	CLIP-seq
MIRT2690854	hsa-miR-488	CLIP-seq
MIRT2328673	hsa-miR-501-3p	CLIP-seq
MIRT2328674	hsa-miR-502-3p	CLIP-seq
MIRT2328675	hsa-miR-513a-5p	CLIP-seq
MIRT2328676	hsa-miR-519d	CLIP-seq
MIRT2328677	hsa-miR-520g	CLIP-seq
MIRT1352165	hsa-miR-544b	CLIP-seq
MIRT2328680	hsa-miR-587	CLIP-seq
MIRT2328681	hsa-miR-590-3p	CLIP-seq
MIRT2690855	hsa-miR-603	CLIP-seq
MIRT2690856	hsa-miR-638	CLIP-seq
MIRT2690857	hsa-miR-761	CLIP-seq
MIRT2690858	hsa-miR-767-3p	CLIP-seq
MIRT2328684	hsa-miR-767-5p	CLIP-seq
MIRT2690859	hsa-miR-769-3p	CLIP-seq
MIRT2690860	hsa-miR-922	CLIP-seq
MIRT2328685	hsa-miR-93	CLIP-seq
MIRT2690861	hsa-miR-936	CLIP-seq
MIRT2690862	hsa-miR-943	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	NAS	10187864
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IEA
GO:0006811	Process	Ion transport	IDA	10187864
GO:0006811	Process	Ion transport	TAS
GO:0006884	Process	Cell volume homeostasis	IBA	21873635
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0008519	Function	Ammonium transmembrane transporter activity	IDA	12657561
GO:0015379	Function	Potassium:chloride symporter activity	IBA	21873635
GO:0015379	Function	Potassium:chloride symporter activity	IDA	10187864, 16048901
GO:0016021	Component	Integral component of membrane	NAS	10187864
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0045202	Component	Synapse	IEA
GO:0055064	Process	Chloride ion homeostasis	IBA	21873635
GO:0055075	Process	Potassium ion homeostasis	IBA	21873635
GO:0071477	Process	Cellular hypotonic salinity response	IDA	16048901
GO:0140157	Process	Ammonium import across plasma membrane	IDA	12657561
GO:1902476	Process	Chloride transmembrane transport	IBA	21873635
GO:1990573	Process	Potassium ion import across plasma membrane	IBA	21873635

Other IDs

• MIM: 604878
• HGNC: 10914
• e!Ensembl: ENSG00000140199

Protein

• UniProt ID: Q9UHW9
• Protein name: Solute carrier family 12 member 6 (Electroneutral potassium-chloride cotransporter 3) (K-Cl cotransporter 3)
• Protein function: [Isoform 1]: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:10600773, PubMed:11551954, PubMed:16048901, PubMed:18566107, PubMed:19665974, PubMed:21628467, PubMed:27485015). May contribute to cell v
• PDB: 6M1Y, 6M22, 6Y5R, 6Y5V, 7AIN, 7AIO, 7D90, 7NGB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00324	AA_permease	190 → 384	Amino acid permease	Family
  PF00324	AA_permease	456 → 761	Amino acid permease	Family
  PF03522	SLC12	773 → 897	Solute carrier family 12	Family
  PF03522	SLC12	893 → 1150	Solute carrier family 12	Family

• Sequence:

  MHPPETTTKMASVRFMVTPTKIDDIPGLSDTSPDLSSRSSSRVRFSSRESVPETSRSEPM
  SEMSGATTSLATVALDPPSDRTSHPQDVIEDLSQNSITGEHSQLLDDGHKKARNAYLNNS
  NYEEGDEYFDKNLALFEEEMDTRPKVSSLLNRMANYTNLTQGAKEHEEAENITEGKKKPT
  KTPQMGTFMGVYLPCLQNIFGVILFLRLTWVVGTAGVLQAFAIVLICCCCTMLTAISMSA
  IATNGVVPAGGSYFMISRALGPEFGGAVGLCFYLGTTFAAAMYILGAIEIFLVYIVPRAA
  IFHSDDALKESAAMLNNMRVYGTAFLVLMVLVVFIGVRYVNKFASLFLACVIVSILAIYA
  GAIKSSFAPPHFPVCMLGNRTLSSRHIDVCSKTKEINNMTVPSKLWGFFCNSSQFFNATC
  DEYFVHNNVTSIQGIPGLASGIITENLWSNYLPKGEIIEKPSAKSSDVLGSLNHEYVLVD
  ITTSFTLLVGIFFPSVTGIMAGSNRSGDLKDAQKSIPIGTILAILTTSFVYLSNVVLFGA
  CIEGVVLRDKFGDAVKGNLVVGTLSWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAK
  DNIIPFLRVFGHSKANGEPTWALLLTAAIAELGILIASLDLVAPILSMFFLMCYLFVNLA
  CALQTLLRTPNWRPRFRYYHWALSFMGMSICLALMFISSWYYAIVAMVIAGMIYKYIEYQ
  GAEKEWGDGIRGLSLSAARFALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKHPRLLTFA
  SQLKAGKGLTIVGSVIVGNFLENYGEALAAEQTIKHLMEAEKVKGFCQLVVAAKLREGIS
  HLIQSCGLGGMKHNTVVMGWPNGWRQSEDARAWKTFIGTVRVTTAAHLALLVAKNISFFP
  SNVEQFSEGNIDVWWIVHDGGMLMLLPFLLKQHKVWRKCSIRIFTVAQLEDNSIQMKKDL
  ATFLYHLRIEAEVEVVEMHDSDISAYTYERTLMMEQRSQMLRHMRLSKTERDREAQLVKD
  RNSMLRLTSIGSDEDEETETYQEKVHMTWTKDKYMASRGQKAKSMEGFQDLLNMRPDQSN
  VRRMHTAVKLNEVIVNKSHEAKLVLLNMPGPPRNPEGDENYMEFLEVLTEGLERVLLVRG
  GGSEVITIYS

• Sequence length: 1150

Pathways

Reactome:

Cation-coupled Chloride cotransporters
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs281865153, rs281865154, rs864321680, rs864321681, rs1057517670, rs1085307122, rs1064794325, rs1884302, rs1555750816, rs1599823350
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
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	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Polyneuropathy	Polyneuropathy, Polyneuropathy, Motor	rs1597597437
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Acrocephaly	Acrocephaly
Aqueductal stenosis	Aqueductal Stenosis
Barrett esophagus	Barrett Esophagus	rs41341748	29551738
Bipolar disorder	Bipolar Disorder		18536702, 17239033, 16098236
Brachycephaly	Brachycephaly
Camptodactyly of fingers	Clinodactyly of the 5th finger
Corpus callosum agenesis neuronopathy	Corpus callosum agenesis neuronopathy		18566107, 20020398, 25525159, 12368912, 12838516, 21628467, 22462673, 26392352, 17893295, 16606917, 24341143
Corpus callosum agenesis-neuronopathy syndrome	Corpus callosum agenesis-neuronopathy syndrome
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis
High palate	Byzanthine arch palate
Hypoplasia of the maxilla	Hypoplasia of the maxilla
Macrotia	Macrotia
Motor delay	Clumsiness - motor delay
Nervous system diseases	Peripheral Nervous System Diseases		21245421
Peripheral axonal neuropathy	Peripheral axonal neuropathy	rs202219507, rs529035174, rs758974790, rs70983380, rs761291489, rs1579721449, rs1572614757, rs777077185
Psychosis	Psychotic Disorders
Ptosis	Blepharoptosis, Ptosis	rs139920573
Sensory neuropathy	Sensory neuropathy
Strabismus	Strabismus
Syndactyly of the toes	2-3 toe syndactyly