rs387906813
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387906813(A;C) |
Make rs387906813(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 22181546 |
Gene | GATA6 |
is a | snp |
is | mentioned by |
dbSNP | rs387906813 |
dbSNP (classic) | rs387906813 |
ClinGen | rs387906813 |
ebi | rs387906813 |
HLI | rs387906813 |
Exac | rs387906813 |
Gnomad | rs387906813 |
Varsome | rs387906813 |
LitVar | rs387906813 |
Map | rs387906813 |
PheGenI | rs387906813 |
Biobank | rs387906813 |
1000 genomes | rs387906813 |
hgdp | rs387906813 |
ensembl | rs387906813 |
geneview | rs387906813 |
scholar | rs387906813 |
rs387906813 | |
pharmgkb | rs387906813 |
gwascentral | rs387906813 |
openSNP | rs387906813 |
23andMe | rs387906813 |
SNPshot | rs387906813 |
SNPdbe | rs387906813 |
MSV3d | rs387906813 |
GWAS Ctlg | rs387906813 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906813(C;C) rs387906813(G;G) |
Alt | rs387906813(C;C) rs387906813(G;G) |
Reference | Rs387906813(A;A) |
Significance | Pathogenic |
Disease | Persistent truncus arteriosus Pancreatic agenesis and congenital heart disease |
Variation | info |
Gene | GATA6 |
CLNDBN | Persistent truncus arteriosus Pancreatic agenesis and congenital heart disease |
Reversed | 0 |
HGVS | NC_000018.9:g.19761507A>C; NC_000018.9:g.19761507A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023128.2, RCV000023137.3, |