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rs137852667

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852667(A;A)
Make rs137852667(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68935404
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs137852667
ebirs137852667
HLIrs137852667
Exacrs137852667
Varsomers137852667
Maprs137852667
PheGenIrs137852667
hapmaprs137852667
1000 genomesrs137852667
hgdprs137852667
ensemblrs137852667
gopubmedrs137852667
geneviewrs137852667
scholarrs137852667
googlers137852667
pharmgkbrs137852667
gwascentralrs137852667
openSNPrs137852667
23andMers137852667
23andMe allrs137852667
SNP Nexus

SNPshotrs137852667
SNPdbers137852667
MSV3drs137852667
GWAS Ctlgrs137852667
Max Magnitude0
OMIM600502
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852667(A;A)
Alt rs137852667(A;A)
Reference rs137852667(G;G)
Significance Pathogenic
Disease Werdnig-Hoffmann disease Charcot-Marie-Tooth disease
Variation info
Gene IGHMBP2
CLNDBN Werdnig-Hoffmann disease Charcot-Marie-Tooth disease
Reversed 0
HGVS NC_000011.9:g.68702872G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009684.6, RCV000192262.1,