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rs59568967

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs59568967(C;C)
Make rs59568967(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44915197
GeneGFAP
is asnp
is mentioned by
dbSNPrs59568967
dbSNP (classic)rs59568967
ClinGenrs59568967
ebirs59568967
HLIrs59568967
Exacrs59568967
Gnomadrs59568967
Varsomers59568967
LitVarrs59568967
Maprs59568967
PheGenIrs59568967
Biobankrs59568967
1000 genomesrs59568967
hgdprs59568967
ensemblrs59568967
geneviewrs59568967
scholarrs59568967
googlers59568967
pharmgkbrs59568967
gwascentralrs59568967
openSNPrs59568967
23andMers59568967
SNPshotrs59568967
SNPdbers59568967
MSV3drs59568967
GWAS Ctlgrs59568967
Max Magnitude0
ClinVar
Risk rs59568967(C;C)
Alt rs59568967(C;C)
Reference Rs59568967(T;T)
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.42992565A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000056881.1, RCV000192122.1,