rs137853075
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 5.8 | Likely miscall in Ancestry v2c data; otherwise, STK11 gene mutation associated with Peutz-Jeghers syndrome |
(C;C) | 0 | common in clinvar |
Make rs137853075(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 1221237 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs137853075 |
dbSNP (classic) | rs137853075 |
ClinGen | rs137853075 |
ebi | rs137853075 |
HLI | rs137853075 |
Exac | rs137853075 |
Gnomad | rs137853075 |
Varsome | rs137853075 |
LitVar | rs137853075 |
Map | rs137853075 |
PheGenI | rs137853075 |
Biobank | rs137853075 |
1000 genomes | rs137853075 |
hgdp | rs137853075 |
ensembl | rs137853075 |
geneview | rs137853075 |
scholar | rs137853075 |
rs137853075 | |
pharmgkb | rs137853075 |
gwascentral | rs137853075 |
openSNP | rs137853075 |
23andMe | rs137853075 |
SNPshot | rs137853075 |
SNPdbe | rs137853075 |
MSV3d | rs137853075 |
GWAS Ctlg | rs137853075 |
Max Magnitude | 5.8 |
c.759C>A (p.Tyr253Ter)
23andMe name: i6018884
ClinVar | |
---|---|
Risk | rs137853075(A;A) rs137853075(T;T) |
Alt | rs137853075(A;A) rs137853075(T;T) |
Reference | Rs137853075(C;C) |
Significance | Pathogenic |
Disease | Peutz-Jeghers syndrome not specified |
Variation | info |
Gene | STK11 |
CLNDBN | Peutz-Jeghers syndrome not specified |
Reversed | 0 |
HGVS | NC_000019.9:g.1221236C>A; NC_000019.9:g.1221236C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007865.4, RCV000421885.1, |