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rs77804083

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/142
Chromosome5
Position70238216
GeneSMN1
is asnp
is mentioned by
dbSNPrs77804083
ebirs77804083
HLIrs77804083
Exacrs77804083
Varsomers77804083
Maprs77804083
PheGenIrs77804083
hapmaprs77804083
1000 genomesrs77804083
hgdprs77804083
ensemblrs77804083
gopubmedrs77804083
geneviewrs77804083
scholarrs77804083
googlers77804083
pharmgkbrs77804083
gwascentralrs77804083
openSNPrs77804083
23andMers77804083
23andMe allrs77804083
SNP Nexus

SNPshotrs77804083
SNPdbers77804083
MSV3drs77804083
GWAS Ctlgrs77804083
Merged fromRs104893929
Max Magnitude6

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,