rs104893930

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

5

Position

70938845

Gene

SMN1

is a	snp
is	mentioned by
dbSNP	rs104893930
dbSNP (classic)	rs104893930
ClinGen	rs104893930
ebi	rs104893930
HLI	rs104893930
Exac	rs104893930
Gnomad	rs104893930
Varsome	rs104893930
LitVar	rs104893930
Map	rs104893930
PheGenI	rs104893930
Biobank	rs104893930
1000 genomes	rs104893930
hgdp	rs104893930
ensembl	rs104893930
geneview	rs104893930
scholar	rs104893930
google	rs104893930
pharmgkb	rs104893930
gwascentral	rs104893930
openSNP	rs104893930
23andMe	rs104893930
SNPshot	rs104893930
SNPdbe	rs104893930
MSV3d	rs104893930
GWAS Ctlg	rs104893930

Max Magnitude

6

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.

OMIM	600354
Desc
Variant	0012
Related	also

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_000005.9:g.70234672G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009752.2,