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rs137852665

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852665(A;A)
Make rs137852665(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68934466
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs137852665
dbSNP (old)rs137852665
ClinGenrs137852665
ebirs137852665
HLIrs137852665
Exacrs137852665
Gnomadrs137852665
Varsomers137852665
Maprs137852665
PheGenIrs137852665
Biobankrs137852665
1000 genomesrs137852665
hgdprs137852665
ensemblrs137852665
gopubmedrs137852665
geneviewrs137852665
scholarrs137852665
googlers137852665
pharmgkbrs137852665
gwascentralrs137852665
openSNPrs137852665
23andMers137852665
23andMe allrs137852665
SNP Nexus

SNPshotrs137852665
SNPdbers137852665
MSV3drs137852665
GWAS Ctlgrs137852665
Max Magnitude0
OMIM600502
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852665(A;A)
Alt rs137852665(A;A)
Reference Rs137852665(G;G)
Significance Pathogenic
Disease Werdnig-Hoffmann disease Spinal muscular atrophy not provided
Variation info
Gene IGHMBP2
CLNDBN Werdnig-Hoffmann disease Spinal muscular atrophy, distal, autosomal recessive, 1 not provided
Reversed 0
HGVS NC_000011.9:g.68701934G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009682.3, RCV000235071.1, RCV000235520.1,