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rs267607518

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607518(C;C)
Make rs267607518(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44915228
GeneGFAP
is asnp
is mentioned by
dbSNPrs267607518
ebirs267607518
HLIrs267607518
Exacrs267607518
Varsomers267607518
Maprs267607518
PheGenIrs267607518
hapmaprs267607518
1000 genomesrs267607518
hgdprs267607518
ensemblrs267607518
gopubmedrs267607518
geneviewrs267607518
scholarrs267607518
googlers267607518
pharmgkbrs267607518
gwascentralrs267607518
openSNPrs267607518
23andMers267607518
23andMe allrs267607518
SNP Nexus

SNPshotrs267607518
SNPdbers267607518
MSV3drs267607518
GWAS Ctlgrs267607518
Max Magnitude0
ClinVar
Risk rs267607518(C,T;C,T)
Alt rs267607518(C,T;C,T)
Reference rs267607518(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.42992596C>G; NC_000017.10:g.42992596C>T
CLNSRC
CLNACC RCV000056876.1, RCV000192118.1, RCV000192117.1,