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rs57815192

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs57815192(A;G)
Make rs57815192(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44911251
GeneGFAP
is asnp
is mentioned by
dbSNPrs57815192
dbSNP (classic)rs57815192
ClinGenrs57815192
ebirs57815192
HLIrs57815192
Exacrs57815192
Gnomadrs57815192
Varsomers57815192
LitVarrs57815192
Maprs57815192
PheGenIrs57815192
Biobankrs57815192
1000 genomesrs57815192
hgdprs57815192
ensemblrs57815192
geneviewrs57815192
scholarrs57815192
googlers57815192
pharmgkbrs57815192
gwascentralrs57815192
openSNPrs57815192
23andMers57815192
SNPshotrs57815192
SNPdbers57815192
MSV3drs57815192
GWAS Ctlgrs57815192
Max Magnitude0
ClinVar
Risk rs57815192(G;G) rs57815192(T;T)
Alt rs57815192(G;G) rs57815192(T;T)
Reference Rs57815192(A;A)
Significance Pathogenic
Disease not provided Alexander's disease
Variation info
Gene GFAP
CLNDBN not provided Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42988619T>A; NC_000017.10:g.42988619T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000056832.1, RCV000192171.1, RCV000056831.1, RCV000192170.1,