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rs587776969

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(GAC;GAC) 0 common in clinvar
(GACA;GACA) 0 common in clinvar
(GTC;GTC) 0 common in clinvar
(I;I) 0 common genotype
Make rs587776969(-;-)
Make rs587776969(-;GTC)
ReferenceGRCh38 38.1/142
Chromosome17
Position81868936
GeneARHGDIA
is asnp
is mentioned by
dbSNPrs587776969
dbSNP (classic)rs587776969
ClinGenrs587776969
ebirs587776969
HLIrs587776969
Exacrs587776969
Gnomadrs587776969
Varsomers587776969
LitVarrs587776969
Maprs587776969
PheGenIrs587776969
Biobankrs587776969
1000 genomesrs587776969
hgdprs587776969
ensemblrs587776969
geneviewrs587776969
scholarrs587776969
googlers587776969
pharmgkbrs587776969
gwascentralrs587776969
openSNPrs587776969
23andMers587776969
SNPshotrs587776969
SNPdbers587776969
MSV3drs587776969
GWAS Ctlgrs587776969
Max Magnitude0
ClinVar
Risk Rs587776969(GTC;GTC) rs587776969(-;-)
Alt Rs587776969(GTC;GTC) rs587776969(-;-)
Reference Rs587776969(GAC;GAC)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene ARHGDIA
CLNDBN Nephrotic syndrome, type 8
Reversed 1
HGVS NC_000017.10:g.79826812_79826814delGTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000043532.3,