Have questions? Visit https://www.reddit.com/r/SNPedia

rs267607514

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607514(A;A)
Make rs267607514(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44911369
GeneGFAP
is asnp
is mentioned by
dbSNPrs267607514
dbSNP (classic)rs267607514
ClinGenrs267607514
ebirs267607514
HLIrs267607514
Exacrs267607514
Gnomadrs267607514
Varsomers267607514
LitVarrs267607514
Maprs267607514
PheGenIrs267607514
Biobankrs267607514
1000 genomesrs267607514
hgdprs267607514
ensemblrs267607514
geneviewrs267607514
scholarrs267607514
googlers267607514
pharmgkbrs267607514
gwascentralrs267607514
openSNPrs267607514
23andMers267607514
SNPshotrs267607514
SNPdbers267607514
MSV3drs267607514
GWAS Ctlgrs267607514
Max Magnitude0
ClinVar
Risk rs267607514(A;A)
Alt rs267607514(A;A)
Reference Rs267607514(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.42988737C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000056919.1, RCV000192152.1, RCV000192154.1,