rs1064793427
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
(C;C) | 0 | common in clinvar |
Make rs1064793427(-;-) |
Chromosome | 19 |
Position | 1221996 |
Gene | STK11 |
is a | snp |
is | mentioned by |
dbSNP | rs1064793427 |
dbSNP (classic) | rs1064793427 |
ClinGen | rs1064793427 |
ebi | rs1064793427 |
HLI | rs1064793427 |
Exac | rs1064793427 |
Gnomad | rs1064793427 |
Varsome | rs1064793427 |
LitVar | rs1064793427 |
Map | rs1064793427 |
PheGenI | rs1064793427 |
Biobank | rs1064793427 |
1000 genomes | rs1064793427 |
hgdp | rs1064793427 |
ensembl | rs1064793427 |
geneview | rs1064793427 |
scholar | rs1064793427 |
rs1064793427 | |
pharmgkb | rs1064793427 |
gwascentral | rs1064793427 |
openSNP | rs1064793427 |
23andMe | rs1064793427 |
SNPshot | rs1064793427 |
SNPdbe | rs1064793427 |
MSV3d | rs1064793427 |
GWAS Ctlg | rs1064793427 |
Max Magnitude | 5.8 |
c.910delC (p.Arg304Glyfs)
ClinVar | |
---|---|
Risk | rs1064793427(-;-) |
Alt | rs1064793427(-;-) |
Reference | Rs1064793427(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | STK11 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.1221995delC |
CLNSRC | |
CLNACC | RCV000487243.1, |