ATP8B1

ATPase phospholipid transporting 8B1

Summary

This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]

Known Variants862 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs779489096	18:55,313,775	G/A	—	uncertain significance
rs117693241	18:55,313,780	T/C	—	benign
rs1129621	18:55,313,783	A/T	—	benign
rs1425339940	18:55,313,869	C/G	—	uncertain significance
rs574070627	18:55,313,887	C/T	—	uncertain significance
rs747148347	18:55,313,924	C/T	—	uncertain significance
rs11543269	18:55,313,997	T/C	—	benign
rs932274962	18:55,314,044	C/T	—	uncertain significance
rs367994135	18:55,314,091	A/G	—	uncertain significance
rs559805305	18:55,314,167	A/C	—	likely benign
rs1383423114	18:55,314,174	T/G	—	uncertain significance
rs886054000	18:55,314,196	A/G	—	uncertain significance
rs1968274	18:55,314,211	C/T	—	benign
rs1277260486	18:55,314,317	C/T	—	uncertain significance
rs1909226700	18:55,314,387	A/C	—	uncertain significance
rs17685852	18:55,314,466	G/A	—	benign
rs571338678	18:55,314,477	A/G	—	uncertain significance
rs997437548	18:55,314,587	T/C	—	uncertain significance
rs886054001	18:55,314,625	T/A	—	uncertain significance
rs138676107	18:55,314,637	A/G	—	uncertain significance
rs886054002	18:55,314,752	A/T	—	uncertain significance
rs4940950	18:55,314,820	C/T	—	likely benign
rs887562438	18:55,314,821	G/A	—	uncertain significance
rs149436273	18:55,314,832	G/C	—	benign
rs182819607	18:55,314,893	A/T	—	likely benign
rs376678355	18:55,314,921	C/T	—	uncertain significance
rs886054003	18:55,314,944	C/T	—	uncertain significance
rs970265600	18:55,314,979	T/C	—	uncertain significance
rs561633356	18:55,314,985	A/T	—	uncertain significance
rs528645513	18:55,314,986	T/A	—	uncertain significance
rs776278990	18:55,314,993	T/G	—	uncertain significance
rs886054004	18:55,315,026	A/G	—	uncertain significance
rs959189849	18:55,315,044	C/T	—	uncertain significance
rs886054005	18:55,315,069	A/G	—	uncertain significance
rs1288737685	18:55,315,071	G/T	—	uncertain significance
rs886054006	18:55,315,074	C/G	—	uncertain significance
rs317822	18:55,315,133	C/T	—	benign
rs758654293	18:55,315,189	G/A	—	uncertain significance
rs1054288138	18:55,315,214	C/T	—	uncertain significance
rs187993447	18:55,315,217	C/A	—	uncertain significance
rs1909290314	18:55,315,253	C/T	—	uncertain significance
rs867751351	18:55,315,280	G/A	—	uncertain significance
rs192231911	18:55,315,294	C/T	—	uncertain significance
rs533724646	18:55,315,380	G/A	—	uncertain significance
rs553050447	18:55,315,424	G/A	—	uncertain significance
rs1599059993	18:55,315,428	G/T	—	uncertain significance
rs11152024	18:55,315,437	C/T	—	benign
rs1909307752	18:55,315,459	C/G	—	uncertain significance
rs757204179	18:55,315,478	A/G	—	uncertain significance
rs886054007	18:55,315,508	A/G	—	uncertain significance
rs745786597	18:55,315,588	G/C	—	uncertain significance
rs886054008	18:55,315,618	C/A	—	uncertain significance
rs34255016	18:55,315,709	A/G	—	likely benign
rs147298165	18:55,315,710	G/A	—	likely benign
rs985232603	18:55,315,729	C/T	—	likely benign
rs2271771	18:55,315,732	G/T	—	benign
rs543866898	18:55,315,737	G/A	—	uncertain significance
rs1909334367	18:55,315,741	G/A	—	likely benign
rs1599060560	18:55,315,743	A/G	—	uncertain significance
rs763398633	18:55,315,744	C/T	—	likely benign
rs1261743603	18:55,315,747	C/T	—	likely benign
rs146405857	18:55,315,749	C/T	—	uncertain significance
rs139012426	18:55,315,751	G/C	—	conflicting classifications of pathogenicity
rs1182499342	18:55,315,759	C/T	—	likely benign
rs1599060649	18:55,315,765	G/A	—	likely benign
rs1433155855	18:55,315,771	A/G	—	likely benign
rs35953143	18:55,315,777	C/T	—	benign
rs754912569	18:55,315,780	C/T	—	conflicting classifications of pathogenicity
rs371785570	18:55,315,794	G/A	—	uncertain significance
rs2511602291	18:55,315,796	A/C	—	uncertain significance
rs763490264	18:55,315,801	G/A	—	likely benign
rs774849132	18:55,315,803	G/T	—	uncertain significance
rs762200450	18:55,315,804	C/T	—	likely benign
rs375842507	18:55,315,807	G/A	—	conflicting classifications of pathogenicity
rs2511602421	18:55,315,810	G/A	—	likely benign
rs755753899	18:55,315,816	G/T	—	likely benign
rs2511602463	18:55,315,819	G/A	—	likely benign
rs753339861	18:55,315,821	C/T	—	uncertain significance
rs778786114	18:55,315,822	C/T	—	conflicting classifications of pathogenicity
rs1371555262	18:55,315,825	G/A	—	likely benign
rs1909348362	18:55,315,828	G/T	—	likely benign
rs748084795	18:55,315,840	C/T	—	conflicting classifications of pathogenicity
rs769954932	18:55,315,849	G/A	—	likely benign
rs749392240	18:55,315,855	C/T	—	likely benign
rs2511602835	18:55,315,858	G/T	—	likely benign
rs1345665554	18:55,315,859	C/T	—	uncertain significance
rs1450205870	18:55,315,861	C/G	—	likely benign
rs1210135659	18:55,315,864	C/A	—	likely benign
rs886043876	18:55,315,871	A/G	—	uncertain significance
rs543858152	18:55,315,880	C/T	—	uncertain significance
rs1376578283	18:55,315,887	C/A	—	uncertain significance
rs1245424563	18:55,315,888	C/T	—	likely benign
rs753385239	18:55,315,896	G/T	—	likely benign
rs1909361289	18:55,315,909	C/T	—	likely benign
rs1215842099	18:55,315,912	C/T	—	likely benign
rs777519002	18:55,315,915	C/T	—	benign
rs2511603315	18:55,315,918	C/T	—	likely benign
rs751410046	18:55,315,923	A/G	—	conflicting classifications of pathogenicity
rs2511603389	18:55,315,930	G/C	—	likely benign
rs1909367483	18:55,315,951	G/A	—	likely benign

Showing 100 of 862 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.