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rs59285727

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs59285727(A;A)
Make rs59285727(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44915251
GeneGFAP
is asnp
is mentioned by
dbSNPrs59285727
dbSNP (classic)rs59285727
ClinGenrs59285727
ebirs59285727
HLIrs59285727
Exacrs59285727
Gnomadrs59285727
Varsomers59285727
LitVarrs59285727
Maprs59285727
PheGenIrs59285727
Biobankrs59285727
1000 genomesrs59285727
hgdprs59285727
ensemblrs59285727
geneviewrs59285727
scholarrs59285727
googlers59285727
pharmgkbrs59285727
gwascentralrs59285727
openSNPrs59285727
23andMers59285727
SNPshotrs59285727
SNPdbers59285727
MSV3drs59285727
GWAS Ctlgrs59285727
Max Magnitude0
OMIM137780
Desc
Variant0004
Relatedalso


ClinVar
Risk rs59285727(A;A) rs59285727(C;C) rs59285727(T;T)
Alt rs59285727(A;A) rs59285727(C;C) rs59285727(T;T)
Reference Rs59285727(G;G)
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.42992619C>A; NC_000017.10:g.42992619C>G; NC_000017.10:g.42992619C>T
CLNSRC UniProtKB (protein) OMIM Allelic Variant
CLNACC RCV000056871.1, RCV000192112.1, RCV000056870.1, RCV000192111.1, RCV000017553.26, RCV000056869.1, RCV000192110.1,