ABCA9

ATP binding cassette subfamily A member 9

Summary

This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008]

Known Variants105 total

rsidPosition (GRCh37)AllelesClassClinVar
rs147287432717:66,972,086C/Auncertain significance
rs95905154717:66,972,105T/Cuncertain significance
rs75438907417:66,972,322C/Tlikely benign
rs7819633817:66,973,049G/Aintron variant
rs206909404717:66,978,723G/Tuncertain significance
rs37295218017:66,978,738C/Tuncertain significance
rs77633634317:66,978,758C/Tlikely benign
rs37095435317:66,979,902G/Cuncertain significance
rs37545525717:66,979,906C/Auncertain significance
rs20119717117:66,979,938G/Tuncertain significance
rs250968776417:66,979,961C/Guncertain significance
rs250968939017:66,980,222C/Guncertain significance
rs77037238217:66,980,227C/Tuncertain significance
rs76890191517:66,980,263G/Auncertain significance
rs37487374317:66,980,306G/Auncertain significance
rs11796739617:66,981,032T/Guncertain significance
rs6173270717:66,981,234T/Cuncertain significance
rs19152489317:66,982,342C/Tuncertain significance
rs14553911817:66,983,911T/G
rs722062317:66,983,915G/T
rs76408108517:66,985,188T/Cuncertain significance
rs20120333917:66,986,056C/Tuncertain significance
rs75355599617:66,986,062T/Cuncertain significance
rs37542498917:66,986,988T/Cuncertain significance
rs75538377517:66,986,993C/Tlikely benign
rs78166392917:66,986,995C/Tuncertain significance
rs56952263917:66,988,349C/Tuncertain significance
rs127181187517:66,988,367C/Tuncertain significance
rs13892008117:66,989,180T/Cuncertain significance
rs250972702217:66,989,214A/Tuncertain significance
rs76234189417:66,992,058C/Tuncertain significance
rs250973612317:66,992,134C/Tuncertain significance
rs14379971117:67,003,921A/Cuncertain significance
rs11249980717:67,003,966A/Glikely benign
rs15051802717:67,004,011G/Alikely benign
rs120701293417:67,004,235T/Auncertain significance
rs14320855017:67,004,310G/Alikely benign
rs1768442017:67,005,261T/Cintron variant
rs14335734317:67,005,636G/Aintron variant
rs159836936117:67,008,185A/Cuncertain significance
rs77036220617:67,008,196C/Tuncertain significance
rs76637985817:67,012,426G/Auncertain significance
rs37156394717:67,012,477G/Cuncertain significance
rs136592045617:67,013,885A/Guncertain significance
rs13804916617:67,013,919C/Tuncertain significance
rs145405590617:67,014,598T/Glikely benign
rs20039691517:67,014,643G/Auncertain significance
rs250982379817:67,014,688T/Guncertain significance
rs37641848317:67,016,544T/Cuncertain significance
rs76827152817:67,016,571C/Tuncertain significance
rs76473839217:67,016,572G/Auncertain significance
rs6174090817:67,016,614C/Tlikely benign
rs14270839617:67,017,963A/Guncertain significance
rs14695036517:67,017,982T/Cuncertain significance
rs37292396017:67,017,990T/Guncertain significance
rs250984735017:67,020,433A/Glikely benign
rs138469401817:67,020,468G/Auncertain significance
rs138790994617:67,020,472C/Auncertain significance
rs55461247617:67,023,493A/Guncertain significance
rs250986007217:67,023,508T/Cuncertain significance
rs116571924417:67,023,526C/Tuncertain significance
rs128268960817:67,023,571T/Auncertain significance
rs77968342017:67,023,587G/Tuncertain significance
rs123653635217:67,023,795C/Tuncertain significance
rs53853520217:67,023,869T/Cuncertain significance
rs14361305917:67,023,942A/Tuncertain significance
rs77666477817:67,024,685G/Auncertain significance
rs75579506417:67,024,762C/Auncertain significance
rs250987331217:67,028,252A/Guncertain significance
rs121207293917:67,028,295A/Tlikely benign
rs139730425617:67,028,307T/Cuncertain significance
rs76157803917:67,028,351C/Tuncertain significance
rs207124161417:67,029,944A/Guncertain significance
rs76558950917:67,030,010A/Guncertain significance
rs116114289717:67,031,401C/Tuncertain significance
rs127055921417:67,031,425G/Tuncertain significance
rs250988489817:67,031,460G/Clikely benign
rs250988491917:67,031,463T/Cuncertain significance
rs20147299817:67,031,515C/Tuncertain significance
rs20132596117:67,031,551T/Cuncertain significance
rs250988703917:67,031,827G/Auncertain significance
rs77768759617:67,031,829G/Auncertain significance
rs144188061217:67,031,899C/Tuncertain significance
rs36859934017:67,031,925A/Guncertain significance
rs250990816817:67,039,642T/Cuncertain significance
rs20017556817:67,039,700T/Cuncertain significance
rs75882006217:67,039,702A/Cuncertain significance
rs250990878717:67,039,754A/Cuncertain significance
rs128867710617:67,039,833C/Tuncertain significance
rs37382868317:67,039,834A/Cuncertain significance
rs75399954117:67,040,652C/Tuncertain significance
rs156796978617:67,041,316A/Guncertain significance
rs37667387217:67,041,348C/Tuncertain significance
rs78066834117:67,041,409C/Tuncertain significance
rs76310869817:67,041,452A/Cuncertain significance
rs36811065317:67,045,495A/Guncertain significance
rs36923672217:67,045,526C/Auncertain significance
rs15010556717:67,045,529G/Cuncertain significance
rs37748497117:67,045,539C/Tuncertain significance
rs207182696017:67,045,558G/Auncertain significance

Showing 100 of 105 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.