rs727504172
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
Make rs727504172(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 1222983 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs727504172 |
dbSNP (classic) | rs727504172 |
ClinGen | rs727504172 |
ebi | rs727504172 |
HLI | rs727504172 |
Exac | rs727504172 |
Gnomad | rs727504172 |
Varsome | rs727504172 |
LitVar | rs727504172 |
Map | rs727504172 |
PheGenI | rs727504172 |
Biobank | rs727504172 |
1000 genomes | rs727504172 |
hgdp | rs727504172 |
ensembl | rs727504172 |
geneview | rs727504172 |
scholar | rs727504172 |
rs727504172 | |
pharmgkb | rs727504172 |
gwascentral | rs727504172 |
openSNP | rs727504172 |
23andMe | rs727504172 |
SNPshot | rs727504172 |
SNPdbe | rs727504172 |
MSV3d | rs727504172 |
GWAS Ctlg | rs727504172 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs727504172(T;T) |
Alt | rs727504172(T;T) |
Reference | Rs727504172(A;A) |
Significance | Pathogenic |
Disease | Peutz-Jeghers syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Peutz-Jeghers syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1222982A>T |
CLNSRC | HGMD |
CLNACC | RCV000153994.3, |