rs76871093

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	carrier of a spinal muscular atrophy disease allele
(T;T)	6	Spinal muscular atrophy, type 2 or 3

Reference

GRCh38 38.1/141

Chromosome

5

Position

70946163

Gene

SMN1

is a	snp
is	mentioned by
dbSNP	rs76871093
dbSNP (classic)	rs76871093
ClinGen	rs76871093
ebi	rs76871093
HLI	rs76871093
Exac	rs76871093
Gnomad	rs76871093
Varsome	rs76871093
LitVar	rs76871093
Map	rs76871093
PheGenI	rs76871093
Biobank	rs76871093
1000 genomes	rs76871093
hgdp	rs76871093
ensembl	rs76871093
geneview	rs76871093
scholar	rs76871093
google	rs76871093
pharmgkb	rs76871093
gwascentral	rs76871093
openSNP	rs76871093
23andMe	rs76871093
SNPshot	rs76871093
SNPdbe	rs76871093
MSV3d	rs76871093
GWAS Ctlg	rs76871093

Merged from

Rs104893925

Max Magnitude

6

rs76871093, also known as c.821C>T, p.Thr274Ile and T274I, is a mutation in the SMN1 gene on chromosome 5.

The rare rs76871093(T) allele is a mutation associated with the recessively inherited type 2 or 3 spinal muscular atrophy.

This SNP is referred to as i5005727 by 23andMe.

ClinVar
Risk	Rs76871093(T;T)
Alt	Rs76871093(T;T)
Reference	Rs76871093(C;C)
Significance	Pathogenic
Disease	Spinal muscular atrophy Kugelberg-Welander disease
Variation	info
Gene	SMN1
CLNDBN	Spinal muscular atrophy, type II Kugelberg-Welander disease
Reversed	0
HGVS	NC_000005.9:g.70241990C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009734.3, RCV000009735.3,