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rs137852670

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852670(C;G)
Make rs137852670(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68929229
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs137852670
ebirs137852670
HLIrs137852670
Exacrs137852670
Varsomers137852670
Maprs137852670
PheGenIrs137852670
hapmaprs137852670
1000 genomesrs137852670
hgdprs137852670
ensemblrs137852670
gopubmedrs137852670
geneviewrs137852670
scholarrs137852670
googlers137852670
pharmgkbrs137852670
gwascentralrs137852670
openSNPrs137852670
23andMers137852670
23andMe allrs137852670
SNP Nexus

SNPshotrs137852670
SNPdbers137852670
MSV3drs137852670
GWAS Ctlgrs137852670
Max Magnitude0
OMIM600502
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852670(G;G)
Alt rs137852670(G;G)
Reference rs137852670(C;C)
Significance Pathogenic
Disease Werdnig-Hoffmann disease
Variation info
Gene IGHMBP2
CLNDBN Werdnig-Hoffmann disease
Reversed 0
HGVS NC_000011.9:g.68696697C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009689.4,