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rs112611995

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs112611995(C;C)
Make rs112611995(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44913433
GeneGFAP
is asnp
is mentioned by
dbSNPrs112611995
dbSNP (classic)rs112611995
ClinGenrs112611995
ebirs112611995
HLIrs112611995
Exacrs112611995
Gnomadrs112611995
Varsomers112611995
LitVarrs112611995
Maprs112611995
PheGenIrs112611995
Biobankrs112611995
1000 genomesrs112611995
hgdprs112611995
ensemblrs112611995
geneviewrs112611995
scholarrs112611995
googlers112611995
pharmgkbrs112611995
gwascentralrs112611995
openSNPrs112611995
23andMers112611995
SNPshotrs112611995
SNPdbers112611995
MSV3drs112611995
GWAS Ctlgrs112611995
Max Magnitude0
ClinVar
Risk rs112611995(C;C)
Alt rs112611995(C;C)
Reference Rs112611995(G;G)
Significance Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 0
HGVS NC_000017.10:g.42990801G>C
CLNSRC
CLNACC RCV000192191.1,