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rs267607517

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607517(C;T)
Make rs267607517(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44910638
GeneGFAP
is asnp
is mentioned by
dbSNPrs267607517
dbSNP (classic)rs267607517
ClinGenrs267607517
ebirs267607517
HLIrs267607517
Exacrs267607517
Gnomadrs267607517
Varsomers267607517
LitVarrs267607517
Maprs267607517
PheGenIrs267607517
Biobankrs267607517
1000 genomesrs267607517
hgdprs267607517
ensemblrs267607517
geneviewrs267607517
scholarrs267607517
googlers267607517
pharmgkbrs267607517
gwascentralrs267607517
openSNPrs267607517
23andMers267607517
SNPshotrs267607517
SNPdbers267607517
MSV3drs267607517
GWAS Ctlgrs267607517
Max Magnitude0
ClinVar
Risk rs267607517(A;A) rs267607517(T;T)
Alt rs267607517(A;A) rs267607517(T;T)
Reference Rs267607517(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.42988006G>A
CLNSRC
CLNACC RCV000056841.1, RCV000192178.1,