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rs267607523

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607523(A;A)
Make rs267607523(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44915273
GeneGFAP
is asnp
is mentioned by
dbSNPrs267607523
dbSNP (classic)rs267607523
ClinGenrs267607523
ebirs267607523
HLIrs267607523
Exacrs267607523
Gnomadrs267607523
Varsomers267607523
LitVarrs267607523
Maprs267607523
PheGenIrs267607523
Biobankrs267607523
1000 genomesrs267607523
hgdprs267607523
ensemblrs267607523
geneviewrs267607523
scholarrs267607523
googlers267607523
pharmgkbrs267607523
gwascentralrs267607523
openSNPrs267607523
23andMers267607523
SNPshotrs267607523
SNPdbers267607523
MSV3drs267607523
GWAS Ctlgrs267607523
Max Magnitude0
ClinVar
Risk rs267607523(A;A)
Alt rs267607523(A;A)
Reference Rs267607523(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.42992641C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000056858.1, RCV000192101.1,