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rs60910145

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs60910145(G;G)
Make rs60910145(G;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position36265988
GeneAPOL1
is asnp
is mentioned by
dbSNPrs60910145
ebirs60910145
HLIrs60910145
Exacrs60910145
Varsomers60910145
Maprs60910145
PheGenIrs60910145
hapmaprs60910145
1000 genomesrs60910145
hgdprs60910145
ensemblrs60910145
gopubmedrs60910145
geneviewrs60910145
scholarrs60910145
googlers60910145
pharmgkbrs60910145
gwascentralrs60910145
openSNPrs60910145
23andMers60910145
23andMe allrs60910145
SNP Nexus

SNPshotrs60910145
SNPdbers60910145
MSV3drs60910145
GWAS Ctlgrs60910145
GMAF0.04959
Max Magnitude0
The derived allele of coding SNP rs60910145 (p.I384M) defines, together with the derived allele of coding SNP rs73885319 (p.S342G), 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-I384M
aa_change Ile384Met
aa_change_short I384M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0751209
summary


ClinVar
Risk rs60910145(G;G)
Alt rs60910145(G;G)
Reference rs60910145(T;T)
Significance Untested
Disease Focal segmental glomerulosclerosis 4
Variation info
Gene APOL1
CLNDBN Focal segmental glomerulosclerosis 4, susceptibility to
Reversed 0
HGVS NC_000022.10:g.36662034T>G
CLNSRC
CLNACC RCV000154652.1,


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