rs4916

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics

Make rs4916(C;T)

Make rs4916(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

70076526

Gene

SMN2

is a	snp
is	mentioned by
dbSNP	rs4916
dbSNP (classic)	rs4916
ClinGen	rs4916
ebi	rs4916
HLI	rs4916
Exac	rs4916
Gnomad	rs4916
Varsome	rs4916
LitVar	rs4916
Map	rs4916
PheGenI	rs4916
Biobank	rs4916
1000 genomes	rs4916
hgdp	rs4916
ensembl	rs4916
geneview	rs4916
scholar	rs4916
google	rs4916
pharmgkb	rs4916
gwascentral	rs4916
openSNP	rs4916
23andMe	rs4916
SNPshot	rs4916
SNPdbe	rs4916
MSV3d	rs4916
GWAS Ctlg	rs4916

Max Magnitude

0

This SNP is discussed in the discussion of spinal muscular atrophy (SMA); it is a SNP theoretically found in exon 7 of the SMN1 gene.

In a world with perfect analytic tests, there would be 3 possible genotypes most likely to arise from this SNP: (-;-), (-;C), and (C;C), indicated spinal muscular atrophy patients, carriers for SMA, and non-carriers, respectively.

However, due to the presence of identical flanking sequences to either side of this location in the genome for the near identical gene SMN2, an imperfect test can yield a (T;T) genotype for this SNP, which is really just a read of the SMN2 gene sequence at this location.

Test that determine the ratio of what could be called rs4916(C) to rs4916(T) "alleles" may be possible to determine dosage ratio between SMN1 and SMN2. Unaffected individuals should have a 1:1 ratio of (C):(T) "alleles", SMA carriers should have a 1:2 ratio of (C):(T) "alleles", and 95% of SMA patients should show have only (T) "alleles" (without any (C) signal).[PMID 15470363] [PMID 19515250 ] A mitotic recombination map proximal to the APC locus on chromosome 5q and assessment of influences on colorectal cancer risk.