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rs267607512

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607512(C;T)
Make rs267607512(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44911237
GeneGFAP
is asnp
is mentioned by
dbSNPrs267607512
dbSNP (classic)rs267607512
ClinGenrs267607512
ebirs267607512
HLIrs267607512
Exacrs267607512
Gnomadrs267607512
Varsomers267607512
LitVarrs267607512
Maprs267607512
PheGenIrs267607512
Biobankrs267607512
1000 genomesrs267607512
hgdprs267607512
ensemblrs267607512
geneviewrs267607512
scholarrs267607512
googlers267607512
pharmgkbrs267607512
gwascentralrs267607512
openSNPrs267607512
23andMers267607512
SNPshotrs267607512
SNPdbers267607512
MSV3drs267607512
GWAS Ctlgrs267607512
Max Magnitude0
ClinVar
Risk rs267607512(G;G) rs267607512(T;T)
Alt rs267607512(G;G) rs267607512(T;T)
Reference Rs267607512(C;C)
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.42988605G>A; NC_000017.10:g.42988605G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000056837.1, RCV000192177.1, RCV000056836.1,