KDM5A

lysine demethylase 5A

Summary

This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [provided by RefSeq, Aug 2013]

Known Variants120 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs371404256	12:394,650	G/A	—	uncertain significance
rs948110800	12:394,717	T/C	—	uncertain significance
rs2498141895	12:394,720	C/T	—	uncertain significance
rs765603943	12:402,107	T/C	—	uncertain significance
rs114476959	12:402,118	T/A	—	benign
rs2498165780	12:402,234	T/A	—	uncertain significance
rs367537993	12:402,269	G/A	—	not provided
rs371512709	12:402,328	C/G	—	uncertain significance
rs2498166287	12:402,333	A/T	—	uncertain significance
rs201730673	12:404,733	C/A	—	likely benign
rs140234136	12:404,774	G/T	—	benign
rs769621706	12:404,798	A/G	—	uncertain significance
rs2498173704	12:404,821	G/T	—	uncertain significance
rs764625886	12:404,848	A/G	—	uncertain significance
rs112579803	12:404,858	C/G	—	benign
rs200429156	12:404,880	T/G	—	likely benign
rs754511816	12:404,896	G/A	—	uncertain significance
rs1943362366	12:404,911	C/A	—	likely pathogenic
rs1943362578	12:404,920	A/G	—	uncertain significance
rs772244111	12:404,924	G/A	—	uncertain significance
rs773583219	12:404,956	G/A	—	uncertain significance
rs1591899632	12:406,325	A/G	—	likely benign
rs372573598	12:406,326	T/C	—	uncertain significance
rs1430695465	12:406,356	C/A	—	uncertain significance
rs1358634021	12:409,676	A/G	—	—
rs376122634	12:416,129	A/G	—	uncertain significance
rs775280239	12:416,138	G/A	—	conflicting classifications of pathogenicity
rs2137386741	12:416,161	T/C	—	uncertain significance
rs143378729	12:416,180	T/C	—	benign
rs147537828	12:416,209	C/T	—	uncertain significance
rs372595289	12:416,657	G/A	—	uncertain significance
rs377242384	12:416,658	C/A	—	uncertain significance
rs1943523085	12:416,701	C/A	—	uncertain significance
rs781474100	12:416,705	C/T	—	uncertain significance
rs1010429341	12:416,706	G/A	—	uncertain significance
rs1392046539	12:416,719	A/C	—	likely benign
rs368978249	12:416,771	G/A	—	uncertain significance
rs1943525298	12:416,774	C/G	—	uncertain significance
rs1943525462	12:416,782	C/T	—	uncertain significance
rs759584455	12:416,845	C/T	—	likely benign
rs2137389109	12:416,919	G/A	—	uncertain significance
rs749506721	12:416,960	T/G	—	uncertain significance
rs148769146	12:417,010	G/A	—	likely benign
rs567047393	12:417,114	C/T	—	uncertain significance
rs2137390009	12:417,152	C/T	—	uncertain significance
rs200804533	12:419,000	C/T	—	uncertain significance
rs201344078	12:419,036	T/C	—	benign
rs867781681	12:419,090	C/A	—	uncertain significance
rs755111845	12:419,093	C/T	—	uncertain significance
rs1443684874	12:419,117	C/T	—	uncertain significance
rs115939216	12:420,064	T/G	—	uncertain significance
rs2498220558	12:420,181	T/C	—	uncertain significance
rs11062357	12:421,394	T/C	intron variant	—
rs144276601	12:422,357	C/G	—	likely benign
rs371715765	12:422,358	G/A	—	uncertain significance
rs2284336	12:423,827	C/T	intron variant	—
rs758407467	12:427,446	C/G	—	uncertain significance
rs759353154	12:427,503	G/A	—	uncertain significance
rs534326124	12:427,537	T/C	—	uncertain significance
rs11062385	12:427,575	A/G	—	benign
rs2498247383	12:430,160	C/A	—	pathogenic
rs2498247574	12:430,195	A/G	—	uncertain significance
rs2498247709	12:430,228	T/A	—	uncertain significance
rs74894801	12:431,586	T/A	—	benign
rs201777598	12:431,592	T/C	—	uncertain significance
rs890670708	12:431,652	T/A	—	uncertain significance
rs1328960425	12:431,676	T/G	—	uncertain significance
rs1268132622	12:431,701	C/A	—	uncertain significance
rs373486689	12:432,253	T/C	—	uncertain significance
rs2498253303	12:432,283	G/A	—	uncertain significance
rs376128815	12:432,289	C/T	—	uncertain significance
rs1247040869	12:432,317	C/T	—	uncertain significance
rs372406233	12:432,376	C/A	—	likely benign
rs74055635	12:432,759	T/C	—	benign
rs6489408	12:433,810	A/G	intron variant	—
rs78998485	12:434,755	C/G	intron variant	—
rs139848270	12:438,072	C/T	—	likely benign
rs199879384	12:438,080	C/T	—	uncertain significance
rs755422866	12:438,121	T/A	—	likely benign
rs2137419150	12:438,129	C/T	—	uncertain significance
rs1943869945	12:440,993	C/A	—	uncertain significance
rs773333271	12:441,032	G/A	—	uncertain significance
rs1164949015	12:441,043	G/C	—	uncertain significance
rs2498278498	12:441,104	C/T	—	uncertain significance
rs200413284	12:442,645	A/C	—	likely benign
rs375005592	12:442,776	A/G	—	likely benign
rs2137426076	12:443,461	G/C	—	uncertain significance
rs2498285184	12:443,468	A/C	—	pathogenic
rs183604048	12:443,535	A/T	—	benign
rs1944145265	12:459,801	G/C	—	uncertain significance
rs779898553	12:459,849	T/C	—	uncertain significance
rs74736498	12:461,374	G/C	—	benign
rs201675393	12:461,384	T/C	—	likely benign
rs2137451496	12:461,396	G/T	—	uncertain significance
rs537935217	12:461,415	T/C	—	uncertain significance
rs185024467	12:461,444	C/T	—	uncertain significance
rs2229352	12:463,248	G/C	—	benign
rs201963528	12:463,288	G/A	—	conflicting classifications of pathogenicity
rs2137454374	12:463,309	A/C	—	uncertain significance
rs368962603	12:463,318	T/C	—	uncertain significance

Showing 100 of 120 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.