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rs58075601

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs58075601(A;A)
Make rs58075601(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44911246
GeneGFAP
is asnp
is mentioned by
dbSNPrs58075601
dbSNP (old)rs58075601
ClinGenrs58075601
ebirs58075601
HLIrs58075601
Exacrs58075601
Gnomadrs58075601
Varsomers58075601
Maprs58075601
PheGenIrs58075601
Biobankrs58075601
1000 genomesrs58075601
hgdprs58075601
ensemblrs58075601
gopubmedrs58075601
geneviewrs58075601
scholarrs58075601
googlers58075601
pharmgkbrs58075601
gwascentralrs58075601
openSNPrs58075601
23andMers58075601
23andMe allrs58075601
SNP Nexus

SNPshotrs58075601
SNPdbers58075601
MSV3drs58075601
GWAS Ctlgrs58075601
Max Magnitude0
ClinVar
Risk rs58075601(A;A) rs58075601(C;C)
Alt rs58075601(A;A) rs58075601(C;C)
Reference Rs58075601(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.42988614C>G; NC_000017.10:g.42988614C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000056834.1, RCV000192174.1, RCV000056833.2, RCV000192173.1,