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rs75660264

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 carrier of a spinal muscular atrophy disease allele
(T;T) 6 Spinal muscular atrophy, type 3
ReferenceGRCh38 38.1/141
Chromosome5
Position70241954
GeneSMN1
is asnp
is mentioned by
dbSNPrs75660264
ebirs75660264
HLIrs75660264
Exacrs75660264
Varsomers75660264
Maprs75660264
PheGenIrs75660264
hapmaprs75660264
1000 genomesrs75660264
hgdprs75660264
ensemblrs75660264
gopubmedrs75660264
geneviewrs75660264
scholarrs75660264
googlers75660264
pharmgkbrs75660264
gwascentralrs75660264
openSNPrs75660264
23andMers75660264
23andMe allrs75660264
SNP Nexus

SNPshotrs75660264
SNPdbers75660264
MSV3drs75660264
GWAS Ctlgrs75660264
Merged fromRs104893926
Max Magnitude6

rs75660264, also known as c.785G>T, p.Ser262Ile and S262I, is a mutation in the SMN1 gene on chromosome 5.

The rare rs75660264(T) allele is a mutation associated with the recessively inherited type 3 spinal muscular atrophy.

This SNP is referred to as i5005728 by 23andMe.

ClinVar
Risk rs75660264(T;T)
Alt rs75660264(T;T)
Reference rs75660264(G;G)
Significance Pathogenic
Disease Kugelberg-Welander disease
Variation info
Gene SMN1
CLNDBN Kugelberg-Welander disease
Reversed 0
HGVS NC_000005.9:g.70241954G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009736.2,