rs3842936
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) |
Make rs3842936(A;A) |
Make rs3842936(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 58407244 |
is a | snp |
is | mentioned by |
dbSNP | rs3842936 |
dbSNP (classic) | rs3842936 |
ClinGen | rs3842936 |
ebi | rs3842936 |
HLI | rs3842936 |
Exac | rs3842936 |
Gnomad | rs3842936 |
Varsome | rs3842936 |
LitVar | rs3842936 |
Map | rs3842936 |
PheGenI | rs3842936 |
Biobank | rs3842936 |
1000 genomes | rs3842936 |
hgdp | rs3842936 |
ensembl | rs3842936 |
geneview | rs3842936 |
scholar | rs3842936 |
rs3842936 | |
pharmgkb | rs3842936 |
gwascentral | rs3842936 |
openSNP | rs3842936 |
23andMe | rs3842936 |
SNPshot | rs3842936 |
SNPdbe | rs3842936 |
MSV3d | rs3842936 |
GWAS Ctlg | rs3842936 |
GMAF | 0.4729 |
Max Magnitude | 0 |
? | (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.