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rs4916

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs4916(C;T)
Make rs4916(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position70076526
GeneSMN2
is asnp
is mentioned by
dbSNPrs4916
ebirs4916
HLIrs4916
Exacrs4916
Varsomers4916
Maprs4916
PheGenIrs4916
hapmaprs4916
1000 genomesrs4916
hgdprs4916
ensemblrs4916
gopubmedrs4916
geneviewrs4916
scholarrs4916
googlers4916
pharmgkbrs4916
gwascentralrs4916
openSNPrs4916
23andMers4916
23andMe allrs4916
SNP Nexus

SNPshotrs4916
SNPdbers4916
MSV3drs4916
GWAS Ctlgrs4916
Max Magnitude0
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 19515250OA-icon.png] A mitotic recombination map proximal to the APC locus on chromosome 5q and assessment of influences on colorectal cancer risk.