rs77804083

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

5

Position

70942389

Gene

SMN1

is a	snp
is	mentioned by
dbSNP	rs77804083
dbSNP (classic)	rs77804083
ClinGen	rs77804083
ebi	rs77804083
HLI	rs77804083
Exac	rs77804083
Gnomad	rs77804083
Varsome	rs77804083
LitVar	rs77804083
Map	rs77804083
PheGenI	rs77804083
Biobank	rs77804083
1000 genomes	rs77804083
hgdp	rs77804083
ensembl	rs77804083
geneview	rs77804083
scholar	rs77804083
google	rs77804083
pharmgkb	rs77804083
gwascentral	rs77804083
openSNP	rs77804083
23andMe	rs77804083
SNPshot	rs77804083
SNPdbe	rs77804083
MSV3d	rs77804083
GWAS Ctlg	rs77804083

Merged from

Rs104893929

Max Magnitude

6

rs77804083, also known as c.305G>A, p.Trp102Ter and Y102X, is a mutation in the SMN1 gene on chromosome 5.

The rare rs77804083(T) allele is a mutation associated with the recessively inherited type 2 spinal muscular atrophy.

This SNP is referred to as i5005733 by 23andMe.

ClinVar
Risk	Rs77804083(T;T)
Alt	Rs77804083(T;T)
Reference	Rs77804083(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	1
HGVS	NC_000005.9:g.70238216G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009746.2, RCV000009747.2,