rs6857249
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs6857249(A;G) |
Make rs6857249(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 68569184 |
Gene | UGT2B17 |
is a | snp |
is | mentioned by |
dbSNP | rs6857249 |
dbSNP (classic) | rs6857249 |
ClinGen | rs6857249 |
ebi | rs6857249 |
HLI | rs6857249 |
Exac | rs6857249 |
Gnomad | rs6857249 |
Varsome | rs6857249 |
LitVar | rs6857249 |
Map | rs6857249 |
PheGenI | rs6857249 |
Biobank | rs6857249 |
1000 genomes | rs6857249 |
hgdp | rs6857249 |
ensembl | rs6857249 |
geneview | rs6857249 |
scholar | rs6857249 |
rs6857249 | |
pharmgkb | rs6857249 |
gwascentral | rs6857249 |
openSNP | rs6857249 |
23andMe | rs6857249 |
SNPshot | rs6857249 |
SNPdbe | rs6857249 |
MSV3d | rs6857249 |
GWAS Ctlg | rs6857249 |
GMAF | 0.04454 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 18334593] Deletion of both copies of this gene alters testosterone metabolism making steroid use undetectable.
The first page of this thesis claims that the deletion allele has a frequency of 4.8% in Swedes but is completely absent in Koreans. While its abstract claims "it is a common polymorphism with an allele frequency of 29 % in Swedes and 78 % in Koreans."