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Rs104893930

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 6 Spinal muscular atrophy, type 2
(A;G) 3 carrier of a spinal muscular atrophy disease allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome5
Position70234672
GeneSMN1
is asnp
is mentioned by
dbSNPrs104893930
ebirs104893930
Exacrs104893930
PheGenIrs104893930
nextbiors104893930
hapmaprs104893930
1000 genomesrs104893930
hgdprs104893930
ensemblrs104893930
gopubmedrs104893930
geneviewrs104893930
scholarrs104893930
googlers104893930
pharmgkbrs104893930
gwascentralrs104893930
openSNPrs104893930
23andMers104893930
23andMe allrs104893930
SNP Nexus

SNPshotrs104893930
SNPdbers104893930
MSV3drs104893930
GWAS Ctlgrs104893930
Max Magnitude6

rs104893930, also known as c.88G>A, p.Asp30Asn and D30N, is a mutation in the SMN1 gene on chromosome 5.

The rare rs104893930(A) allele is a mutation associated with the recessively inherited type 2 spinal muscular atrophy.

This SNP is referred to as i5005734 by 23andMe.

OMIM600354
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104893930(A;A)
Alt rs104893930(A;A)
Reference rs104893930(G;G)
Significance Pathogenic
Disease Spinal muscular atrophy
Variation info
Gene SMN1
CLNDBN Spinal muscular atrophy, type II
Reversed 0
HGVS NC_000005.10:g.70938845G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009752.1,