rs797045180
From SNPedia
Merged into | rs587777711 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797045180(-;-) |
Make rs797045180(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 22172215 |
Gene | GATA6 |
is a | snp |
is | mentioned by |
dbSNP | rs797045180 |
dbSNP (classic) | rs797045180 |
ClinGen | rs797045180 |
ebi | rs797045180 |
HLI | rs797045180 |
Exac | rs797045180 |
Gnomad | rs797045180 |
Varsome | rs797045180 |
LitVar | rs797045180 |
Map | rs797045180 |
PheGenI | rs797045180 |
Biobank | rs797045180 |
1000 genomes | rs797045180 |
hgdp | rs797045180 |
ensembl | rs797045180 |
geneview | rs797045180 |
scholar | rs797045180 |
rs797045180 | |
pharmgkb | rs797045180 |
gwascentral | rs797045180 |
openSNP | rs797045180 |
23andMe | rs797045180 |
SNPshot | rs797045180 |
SNPdbe | rs797045180 |
MSV3d | rs797045180 |
GWAS Ctlg | rs797045180 |
Status | Merged into rs587777711 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs797045180(G;G) |
Significance | Pathogenic |
Disease | Pancreatic agenesis and congenital heart disease Congenital diaphragmatic hernia Malformation of the heart and great vessels |
Variation | info |
Gene | GATA6 |
CLNDBN | Pancreatic agenesis and congenital heart disease Congenital diaphragmatic hernia Malformation of the heart and great vessels |
Reversed | 0 |
HGVS | NC_000018.9:g.19752177delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144068.2, RCV000191917.1, |