rs1060499960
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;ACCGGTGG) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
(ACCGGTGG;ACCGGTGG) | 0 | common/normal |
(GGACCGGT;GGACCGGT) | 0 | common in clinvar |
Make rs1060499960(-;-) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 1223053 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499960 |
dbSNP (classic) | rs1060499960 |
ClinGen | rs1060499960 |
ebi | rs1060499960 |
HLI | rs1060499960 |
Exac | rs1060499960 |
Gnomad | rs1060499960 |
Varsome | rs1060499960 |
LitVar | rs1060499960 |
Map | rs1060499960 |
PheGenI | rs1060499960 |
Biobank | rs1060499960 |
1000 genomes | rs1060499960 |
hgdp | rs1060499960 |
ensembl | rs1060499960 |
geneview | rs1060499960 |
scholar | rs1060499960 |
rs1060499960 | |
pharmgkb | rs1060499960 |
gwascentral | rs1060499960 |
openSNP | rs1060499960 |
23andMe | rs1060499960 |
SNPshot | rs1060499960 |
SNPdbe | rs1060499960 |
MSV3d | rs1060499960 |
GWAS Ctlg | rs1060499960 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs1060499960(-;-) |
Alt | rs1060499960(-;-) |
Reference | Rs1060499960(GGACCGGT;GGACCGGT) |
Significance | Pathogenic |
Disease | Peutz-Jeghers syndrome |
Variation | info |
Gene | STK11 |
CLNDBN | Peutz-Jeghers syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.1223052_1223059delACCGGTGG |
CLNSRC | |
CLNACC | RCV000464957.1, |