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rs104893932

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of a spinal muscular atrophy disease allele
(G;G) 6 Spinal muscular atrophy, type 3
ReferenceGRCh38 38.1/141
Chromosome5
Position70241953
GeneSMN1
is asnp
is mentioned by
dbSNPrs104893932
ebirs104893932
HLIrs104893932
Exacrs104893932
Varsomers104893932
Maprs104893932
PheGenIrs104893932
hapmaprs104893932
1000 genomesrs104893932
hgdprs104893932
ensemblrs104893932
gopubmedrs104893932
geneviewrs104893932
scholarrs104893932
googlers104893932
pharmgkbrs104893932
gwascentralrs104893932
openSNPrs104893932
23andMers104893932
23andMe allrs104893932
SNP Nexus

SNPshotrs104893932
SNPdbers104893932
MSV3drs104893932
GWAS Ctlgrs104893932
Max Magnitude6

rs104893932, also known as c.784A>G, p.Ser262Gly and S262G, is a mutation in the SMN1 gene on chromosome 5.

The rare rs104893932(G) allele is a mutation associated with the recessively inherited type 3 spinal muscular atrophy.

This SNP is referred to as i5005738 by 23andMe.

OMIM600354
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104893932(G;G)
Alt rs104893932(G;G)
Reference rs104893932(A;A)
Significance Pathogenic
Disease Kugelberg-Welander disease
Variation info
Gene SMN1
CLNDBN Kugelberg-Welander disease
Reversed 0
HGVS NC_000005.9:g.70241953A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009756.2,