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rs137852668

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852668(C;T)
Make rs137852668(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68906103
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs137852668
ebirs137852668
HLIrs137852668
Exacrs137852668
Varsomers137852668
Maprs137852668
PheGenIrs137852668
hapmaprs137852668
1000 genomesrs137852668
hgdprs137852668
ensemblrs137852668
gopubmedrs137852668
geneviewrs137852668
scholarrs137852668
googlers137852668
pharmgkbrs137852668
gwascentralrs137852668
openSNPrs137852668
23andMers137852668
23andMe allrs137852668
SNP Nexus

SNPshotrs137852668
SNPdbers137852668
MSV3drs137852668
GWAS Ctlgrs137852668
Max Magnitude0
OMIM600502
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852668(T;T)
Alt rs137852668(T;T)
Reference rs137852668(C;C)
Significance Pathogenic
Disease Werdnig-Hoffmann disease
Variation info
Gene IGHMBP2
CLNDBN Werdnig-Hoffmann disease
Reversed 0
HGVS NC_000011.9:g.68673571C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009685.3,