rs587777373
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;GCA) | 6 | possible causal congenital heart defect mutation |
Make rs587777373(GCA;GCA) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 96332329 |
Gene | MIR1469, NR2F2 |
is a | snp |
is | mentioned by |
dbSNP | rs587777373 |
dbSNP (classic) | rs587777373 |
ClinGen | rs587777373 |
ebi | rs587777373 |
HLI | rs587777373 |
Exac | rs587777373 |
Gnomad | rs587777373 |
Varsome | rs587777373 |
LitVar | rs587777373 |
Map | rs587777373 |
PheGenI | rs587777373 |
Biobank | rs587777373 |
1000 genomes | rs587777373 |
hgdp | rs587777373 |
ensembl | rs587777373 |
geneview | rs587777373 |
scholar | rs587777373 |
rs587777373 | |
pharmgkb | rs587777373 |
gwascentral | rs587777373 |
openSNP | rs587777373 |
23andMe | rs587777373 |
SNPshot | rs587777373 |
SNPdbe | rs587777373 |
MSV3d | rs587777373 |
GWAS Ctlg | rs587777373 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587777373(AGC;AGC) rs587777373(GCA;GCA) |
Alt | rs587777373(AGC;AGC) rs587777373(GCA;GCA) |
Reference | Rs587777373(-;-) |
Significance | Pathogenic |
Disease | Congenital heart defects |
Variation | info |
Gene | NR2F2 MIR1469 |
CLNDBN | Congenital heart defects, multiple types, 4 |
Reversed | 0 |
HGVS | NC_000015.9:g.96875556_96875558dupGCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000116201.4, |