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rs797044590

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044590(C;T)
Make rs797044590(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44910632
GeneGFAP
is asnp
is mentioned by
dbSNPrs797044590
ebirs797044590
HLIrs797044590
Exacrs797044590
Varsomers797044590
Maprs797044590
PheGenIrs797044590
hapmaprs797044590
1000 genomesrs797044590
hgdprs797044590
ensemblrs797044590
gopubmedrs797044590
geneviewrs797044590
scholarrs797044590
googlers797044590
pharmgkbrs797044590
gwascentralrs797044590
openSNPrs797044590
23andMers797044590
23andMe allrs797044590
SNP Nexus

SNPshotrs797044590
SNPdbers797044590
MSV3drs797044590
GWAS Ctlgrs797044590
Max Magnitude0
ClinVar
Risk rs797044590(G,T;G,T)
Alt rs797044590(G,T;G,T)
Reference rs797044590(C;C)
Significance Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42988000G>A; NC_000017.10:g.42988000G>C
CLNSRC
CLNACC RCV000192179.1, RCV000192180.1,