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rs267607513

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607513(C;G)
Make rs267607513(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44911375
GeneGFAP
is asnp
is mentioned by
dbSNPrs267607513
ClinGenrs267607513
ebirs267607513
HLIrs267607513
Exacrs267607513
Varsomers267607513
Maprs267607513
PheGenIrs267607513
hapmaprs267607513
1000 genomesrs267607513
hgdprs267607513
ensemblrs267607513
gopubmedrs267607513
geneviewrs267607513
scholarrs267607513
googlers267607513
pharmgkbrs267607513
gwascentralrs267607513
openSNPrs267607513
23andMers267607513
23andMe allrs267607513
SNP Nexus

SNPshotrs267607513
SNPdbers267607513
MSV3drs267607513
GWAS Ctlgrs267607513
Max Magnitude0
ClinVar
Risk rs267607513(G;G)
Alt rs267607513(G;G)
Reference Rs267607513(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.42988743G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000056917.1, RCV000192152.1,