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rs104893922

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 1
ReferenceGRCh38 38.1/141
Chromosome5
Position70946157
GeneSMN1
is asnp
is mentioned by
dbSNPrs104893922
dbSNP (classic)rs104893922
ClinGenrs104893922
ebirs104893922
HLIrs104893922
Exacrs104893922
Gnomadrs104893922
Varsomers104893922
LitVarrs104893922
Maprs104893922
PheGenIrs104893922
Biobankrs104893922
1000 genomesrs104893922
hgdprs104893922
ensemblrs104893922
geneviewrs104893922
scholarrs104893922
googlers104893922
pharmgkbrs104893922
gwascentralrs104893922
openSNPrs104893922
23andMers104893922
SNPshotrs104893922
SNPdbers104893922
MSV3drs104893922
GWAS Ctlgrs104893922
Max Magnitude6

rs104893922, also known as c.815A>G, p.Tyr272Cys and Y272C, is a mutation in the SMN1 gene on chromosome 5.

The rare rs104893922(G) allele is a mutation associated with the recessively inherited type 1 spinal muscular atrophy.

This SNP is referred to as i5005729 by 23andMe.

OMIM600354
Desc
Variant0004
Relatedalso
ClinVar
Risk Rs104893922(G;G)
Alt Rs104893922(G;G)
Reference Rs104893922(A;A)
Significance Pathogenic
Disease Werdnig-Hoffmann disease
Variation info
Gene SMN1
CLNDBN Werdnig-Hoffmann disease
Reversed 0
HGVS NC_000005.9:g.70241984A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009737.3,