rs587777372
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 6 | possible congenital heart defect mutation |
Make rs587777372(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 96334247 |
Gene | NR2F2 |
is a | snp |
is | mentioned by |
dbSNP | rs587777372 |
dbSNP (classic) | rs587777372 |
ClinGen | rs587777372 |
ebi | rs587777372 |
HLI | rs587777372 |
Exac | rs587777372 |
Gnomad | rs587777372 |
Varsome | rs587777372 |
LitVar | rs587777372 |
Map | rs587777372 |
PheGenI | rs587777372 |
Biobank | rs587777372 |
1000 genomes | rs587777372 |
hgdp | rs587777372 |
ensembl | rs587777372 |
geneview | rs587777372 |
scholar | rs587777372 |
rs587777372 | |
pharmgkb | rs587777372 |
gwascentral | rs587777372 |
openSNP | rs587777372 |
23andMe | rs587777372 |
SNPshot | rs587777372 |
SNPdbe | rs587777372 |
MSV3d | rs587777372 |
GWAS Ctlg | rs587777372 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587777372(T;T) |
Alt | rs587777372(T;T) |
Reference | Rs587777372(A;A) |
Significance | Pathogenic |
Disease | Congenital heart defects |
Variation | info |
Gene | NR2F2 |
CLNDBN | Congenital heart defects, multiple types, 4 |
Reversed | 0 |
HGVS | NC_000015.9:g.96877476A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000116200.4, |