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rs3842936

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G)
Make rs3842936(A;A)
Make rs3842936(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position58407244
is asnp
is mentioned by
dbSNPrs3842936
dbSNP (classic)rs3842936
ClinGenrs3842936
ebirs3842936
HLIrs3842936
Exacrs3842936
Gnomadrs3842936
Varsomers3842936
LitVarrs3842936
Maprs3842936
PheGenIrs3842936
Biobankrs3842936
1000 genomesrs3842936
hgdprs3842936
ensemblrs3842936
geneviewrs3842936
scholarrs3842936
googlers3842936
pharmgkbrs3842936
gwascentralrs3842936
openSNPrs3842936
23andMers3842936
SNPshotrs3842936
SNPdbers3842936
MSV3drs3842936
GWAS Ctlgrs3842936
GMAF0.4729
Max Magnitude0
? (A;A) (A;G) (G;G) 28


This SNP was originally reported in 2008 as marking one end of a chromosomal region associated with Native American myopathy.[PMID 18843099]

A few years later, in 2013, a mutation known as W284 (rs140291094) was identified as a specific mutation from this region of chromosome 12 that, when present in homozygous form, leads to this syndrome.

rs3842936 is therefore a polymorphism without any functional consequence as far as is currently known.