rs387906817
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387906817(A;G) |
Make rs387906817(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 22181504 |
Gene | GATA6 |
is a | snp |
is | mentioned by |
dbSNP | rs387906817 |
dbSNP (classic) | rs387906817 |
ClinGen | rs387906817 |
ebi | rs387906817 |
HLI | rs387906817 |
Exac | rs387906817 |
Gnomad | rs387906817 |
Varsome | rs387906817 |
LitVar | rs387906817 |
Map | rs387906817 |
PheGenI | rs387906817 |
Biobank | rs387906817 |
1000 genomes | rs387906817 |
hgdp | rs387906817 |
ensembl | rs387906817 |
geneview | rs387906817 |
scholar | rs387906817 |
rs387906817 | |
pharmgkb | rs387906817 |
gwascentral | rs387906817 |
openSNP | rs387906817 |
23andMe | rs387906817 |
SNPshot | rs387906817 |
SNPdbe | rs387906817 |
MSV3d | rs387906817 |
GWAS Ctlg | rs387906817 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906817(G;G) |
Alt | rs387906817(G;G) |
Reference | Rs387906817(A;A) |
Significance | Pathogenic |
Disease | Pancreatic agenesis and congenital heart disease |
Variation | info |
Gene | GATA6 |
CLNDBN | Pancreatic agenesis and congenital heart disease |
Reversed | 0 |
HGVS | NC_000018.9:g.19761465A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023133.3, |