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rs748860341

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs748860341(C;G)
Make rs748860341(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44910143
GeneGFAP
is asnp
is mentioned by
dbSNPrs748860341
ebirs748860341
HLIrs748860341
Exacrs748860341
Varsomers748860341
Maprs748860341
PheGenIrs748860341
hapmaprs748860341
1000 genomesrs748860341
hgdprs748860341
ensemblrs748860341
gopubmedrs748860341
geneviewrs748860341
scholarrs748860341
googlers748860341
pharmgkbrs748860341
gwascentralrs748860341
openSNPrs748860341
23andMers748860341
23andMe allrs748860341
SNP Nexus

SNPshotrs748860341
SNPdbers748860341
MSV3drs748860341
GWAS Ctlgrs748860341
Max Magnitude0
ClinVar
Risk rs748860341(G,T;G,T)
Alt rs748860341(G,T;G,T)
Reference rs748860341(C;C)
Significance Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 0
HGVS NC_000017.10:g.42987511C>T
CLNSRC
CLNACC RCV000192190.1,