rs104893935

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

5

Position

70942416

Gene

SMN1

is a	snp
is	mentioned by
dbSNP	rs104893935
dbSNP (classic)	rs104893935
ClinGen	rs104893935
ebi	rs104893935
HLI	rs104893935
Exac	rs104893935
Gnomad	rs104893935
Varsome	rs104893935
LitVar	rs104893935
Map	rs104893935
PheGenI	rs104893935
Biobank	rs104893935
1000 genomes	rs104893935
hgdp	rs104893935
ensembl	rs104893935
geneview	rs104893935
scholar	rs104893935
google	rs104893935
pharmgkb	rs104893935
gwascentral	rs104893935
openSNP	rs104893935
23andMe	rs104893935
SNPshot	rs104893935
SNPdbe	rs104893935
MSV3d	rs104893935
GWAS Ctlg	rs104893935

Max Magnitude

6

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.

OMIM	600354
Desc
Variant	0015
Related	also

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,