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APOL1

From SNPedia

is agene
is mentioned by
EntrezGene8542
PheGenI8542
VariationViewer8542
ClinVarAPOL1
GeneCardsAPOL1
dbSNP8542
SADR8542
HugeNav8542
wikipediaAPOL1
googleAPOL1
gopubmedAPOL1
EVSAPOL1
HEFalMpAPOL1
MyGene2APOL1
23andMeAPOL1
# SNPs8
 Max MagnitudeChromosome positionSummary
rs12106505036,259,617
rs13617536,265,520
rs13617636,265,600
rs223978536,265,284
rs441933036,262,809
rs60910145036,265,988
rs717853132.536,266,000
rs73885319036,265,860

Two APOL1 alleles have been shown to be strongly associated with focal segmental glomerulosclerosis and end-stage renal disease in African Americans, Hispanic Americans and in individuals of African descent. The APOL1 G1 allele, defined by the derived alleles of coding SNPs rs73885319 (p.S342G) and rs60910145 (p.I384M), and the APOL1 G2 allele, defined by the derived allele for indel rs71785313 (p.NYK388K). 10.1126/science.1193032 and 10.1007/s00439-010-0861-0.

Customers of 23andMe can use the presence of the A allele for coding SNP rs2239785 (p.E150K) or the presence of the G allele for coding SNP rs136175 (p.M228I) or coding SNP rs136176 (p.R255K) to exclude the presence of alleles G1 and G2, although absence of these alleles does not imply presence of either G1 or G2. Furthermore, presence of the T allele for SNP rs4419330 excludes the presence of allele G2 and presence of the C allele for SNP rs4419330 excludes the presence of allele G1.