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rs59565950

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs59565950(A;A)
Make rs59565950(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44913333
GeneGFAP
is asnp
is mentioned by
dbSNPrs59565950
ebirs59565950
HLIrs59565950
Exacrs59565950
Varsomers59565950
Maprs59565950
PheGenIrs59565950
hapmaprs59565950
1000 genomesrs59565950
hgdprs59565950
ensemblrs59565950
gopubmedrs59565950
geneviewrs59565950
scholarrs59565950
googlers59565950
pharmgkbrs59565950
gwascentralrs59565950
openSNPrs59565950
23andMers59565950
23andMe allrs59565950
SNP Nexus

SNPshotrs59565950
SNPdbers59565950
MSV3drs59565950
GWAS Ctlgrs59565950
Max Magnitude0
OMIM137780
Desc
Variant0002
Relatedalso


ClinVar
Risk rs59565950(A,C,T;A,C,T)
Alt rs59565950(A,C,T;A,C,T)
Reference rs59565950(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.42990701C>A; NC_000017.10:g.42990701C>G; NC_000017.10:g.42990701C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000056901.1, RCV000192137.1, RCV000056900.1, RCV000192136.1, RCV000017551.27, RCV000056899.1,