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rs137852669

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852669(G;G)
Make rs137852669(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68911599
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs137852669
ebirs137852669
HLIrs137852669
Exacrs137852669
Varsomers137852669
Maprs137852669
PheGenIrs137852669
hapmaprs137852669
1000 genomesrs137852669
hgdprs137852669
ensemblrs137852669
gopubmedrs137852669
geneviewrs137852669
scholarrs137852669
googlers137852669
pharmgkbrs137852669
gwascentralrs137852669
openSNPrs137852669
23andMers137852669
23andMe allrs137852669
SNP Nexus

SNPshotrs137852669
SNPdbers137852669
MSV3drs137852669
GWAS Ctlgrs137852669
Max Magnitude0
OMIM600502
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852669(G;G)
Alt rs137852669(G;G)
Reference rs137852669(T;T)
Significance Pathogenic
Disease Werdnig-Hoffmann disease
Variation info
Gene IGHMBP2
CLNDBN Werdnig-Hoffmann disease
Reversed 0
HGVS NC_000011.9:g.68679067T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009687.3,