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rs104893935

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 carrier of a spinal muscular atrophy disease allele
(G;G) 6 Spinal muscular atrophy, type 1 or 2
ReferenceGRCh38 38.1/141
Chromosome5
Position70942416
GeneSMN1
is asnp
is mentioned by
dbSNPrs104893935
dbSNP (classic)rs104893935
ClinGenrs104893935
ebirs104893935
HLIrs104893935
Exacrs104893935
Gnomadrs104893935
Varsomers104893935
LitVarrs104893935
Maprs104893935
PheGenIrs104893935
Biobankrs104893935
1000 genomesrs104893935
hgdprs104893935
ensemblrs104893935
geneviewrs104893935
scholarrs104893935
googlers104893935
pharmgkbrs104893935
gwascentralrs104893935
openSNPrs104893935
23andMers104893935
SNPshotrs104893935
SNPdbers104893935
MSV3drs104893935
GWAS Ctlgrs104893935
Max Magnitude6

rs104893935, also known as c.332C>G, p.Ala111Gly and A111G, is a mutation in the SMN1 gene on chromosome 5.

The rare rs104893935(G) allele is a mutation associated with the recessively inherited type 1 or 2 spinal muscular atrophy.

This SNP is referred to as i5005737 by 23andMe.

OMIM600354
Desc
Variant0015
Relatedalso
ClinVar
Risk Rs104893935(G;G)
Alt Rs104893935(G;G)
Reference Rs104893935(C;C)
Significance Pathogenic
Disease Werdnig-Hoffmann disease Spinal muscular atrophy
Variation info
Gene SMN1
CLNDBN Werdnig-Hoffmann disease Spinal muscular atrophy, type II
Reversed 0
HGVS NC_000005.9:g.70238243C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009754.2, RCV000009755.2,