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rs59661476

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs59661476(C;C)
Make rs59661476(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44915218
GeneGFAP
is asnp
is mentioned by
dbSNPrs59661476
dbSNP (classic)rs59661476
ClinGenrs59661476
ebirs59661476
HLIrs59661476
Exacrs59661476
Gnomadrs59661476
Varsomers59661476
LitVarrs59661476
Maprs59661476
PheGenIrs59661476
Biobankrs59661476
1000 genomesrs59661476
hgdprs59661476
ensemblrs59661476
geneviewrs59661476
scholarrs59661476
googlers59661476
pharmgkbrs59661476
gwascentralrs59661476
openSNPrs59661476
23andMers59661476
SNPshotrs59661476
SNPdbers59661476
MSV3drs59661476
GWAS Ctlgrs59661476
Max Magnitude0
ClinVar
Risk rs59661476(C;C)
Alt rs59661476(C;C)
Reference Rs59661476(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.42992586A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000056880.1, RCV000192120.1,