rs587776872
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ATGAAAAA;ATGAAAAA) | 0 | common in clinvar |
Make rs587776872(-;-) |
Make rs587776872(-;TGAAAAAA) |
Make rs587776872(TGAAAAAA;TGAAAAAA) |
Reference | GRCh38 38.1/142 |
Chromosome | 18 |
Position | 22182776 |
Gene | GATA6 |
is a | snp |
is | mentioned by |
dbSNP | rs587776872 |
dbSNP (classic) | rs587776872 |
ClinGen | rs587776872 |
ebi | rs587776872 |
HLI | rs587776872 |
Exac | rs587776872 |
Gnomad | rs587776872 |
Varsome | rs587776872 |
LitVar | rs587776872 |
Map | rs587776872 |
PheGenI | rs587776872 |
Biobank | rs587776872 |
1000 genomes | rs587776872 |
hgdp | rs587776872 |
ensembl | rs587776872 |
geneview | rs587776872 |
scholar | rs587776872 |
rs587776872 | |
pharmgkb | rs587776872 |
gwascentral | rs587776872 |
openSNP | rs587776872 |
23andMe | rs587776872 |
SNPshot | rs587776872 |
SNPdbe | rs587776872 |
MSV3d | rs587776872 |
GWAS Ctlg | rs587776872 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776872(-;-) |
Alt | rs587776872(-;-) |
Reference | Rs587776872(ATGAAAAA;ATGAAAAA) |
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.19762737_19762744delTGAAAAAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023134.3, |