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rs57661783

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs57661783(A;A)
Make rs57661783(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44913421
GeneGFAP
is asnp
is mentioned by
dbSNPrs57661783
dbSNP (classic)rs57661783
ClinGenrs57661783
ebirs57661783
HLIrs57661783
Exacrs57661783
Gnomadrs57661783
Varsomers57661783
LitVarrs57661783
Maprs57661783
PheGenIrs57661783
Biobankrs57661783
1000 genomesrs57661783
hgdprs57661783
ensemblrs57661783
geneviewrs57661783
scholarrs57661783
googlers57661783
pharmgkbrs57661783
gwascentralrs57661783
openSNPrs57661783
23andMers57661783
SNPshotrs57661783
SNPdbers57661783
MSV3drs57661783
GWAS Ctlgrs57661783
Max Magnitude0
ClinVar
Risk rs57661783(A;A) rs57661783(T;T)
Alt rs57661783(A;A) rs57661783(T;T)
Reference Rs57661783(G;G)
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.42990789C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000056894.1, RCV000192130.1,