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rs797044591

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044591(-;-)
Make rs797044591(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44908072
GeneGFAP
is asnp
is mentioned by
dbSNPrs797044591
dbSNP (classic)rs797044591
ClinGenrs797044591
ebirs797044591
HLIrs797044591
Exacrs797044591
Gnomadrs797044591
Varsomers797044591
LitVarrs797044591
Maprs797044591
PheGenIrs797044591
Biobankrs797044591
1000 genomesrs797044591
hgdprs797044591
ensemblrs797044591
geneviewrs797044591
scholarrs797044591
googlers797044591
pharmgkbrs797044591
gwascentralrs797044591
openSNPrs797044591
23andMers797044591
SNPshotrs797044591
SNPdbers797044591
MSV3drs797044591
GWAS Ctlgrs797044591
Max Magnitude0
ClinVar
Risk rs797044591(-;-)
Alt rs797044591(-;-)
Reference Rs797044591(G;G)
Significance Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42985440delC
CLNSRC
CLNACC RCV000192187.1,