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rs73885319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs73885319(A;G)
Make rs73885319(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position36265860
GeneAPOL1
is asnp
is mentioned by
dbSNPrs73885319
ebirs73885319
HLIrs73885319
Exacrs73885319
Varsomers73885319
Maprs73885319
PheGenIrs73885319
hapmaprs73885319
1000 genomesrs73885319
hgdprs73885319
ensemblrs73885319
gopubmedrs73885319
geneviewrs73885319
scholarrs73885319
googlers73885319
pharmgkbrs73885319
gwascentralrs73885319
openSNPrs73885319
23andMers73885319
23andMe allrs73885319
SNP Nexus

SNPshotrs73885319
SNPdbers73885319
MSV3drs73885319
GWAS Ctlgrs73885319
GMAF0.04959
Max Magnitude0
The derived allele of coding SNP rs73885319 (p.S342G) defines, together with the derived allele of coding SNP rs60910145 (p.I384M), the APOL1 G1 allele. This allele has been shown to associate with kidney disease while conferring protection against Trypanosoma brucei rhodesiense. 10.1126/science.1193032
OMIM603743
DescAPOLIPOPROTEIN L-I; APOL1
Variant
Relatedalso
OMIM603743
Desc
Variant0001
Relatedalso
[PMID 20635188OA-icon.png] Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene.
GET Evidence
APOL1-S342G
aa_change Ser342Gly
aa_change_short S342G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0763153
summary


ClinVar
Risk rs73885319(G;G)
Alt rs73885319(G;G)
Reference rs73885319(A;A)
Significance Other
Disease Focal segmental glomerulosclerosis 4
Variation info
Gene APOL1
CLNDBN Focal segmental glomerulosclerosis 4, susceptibility to
Reversed 0
HGVS NC_000022.10:g.36661906A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006453.2,


[PMID 22956460OA-icon.png] Genetic variation in APOL1 and MYH9 genes is associated with chronic kidney disease among Nigerians.

[PMID 25921719] APOL1 Genotype and Glomerular and Tubular Kidney Injury in Women With HIV

[PMID 26025194OA-icon.png] APOL1 G1 genotype modifies the association between HDLC and kidney function in African Americans