rs28374544
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs28374544(A;G) |
Make rs28374544(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 105802051 |
Gene | ZFPM2, ZFPM2-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs28374544 |
dbSNP (classic) | rs28374544 |
ClinGen | rs28374544 |
ebi | rs28374544 |
HLI | rs28374544 |
Exac | rs28374544 |
Gnomad | rs28374544 |
Varsome | rs28374544 |
LitVar | rs28374544 |
Map | rs28374544 |
PheGenI | rs28374544 |
Biobank | rs28374544 |
1000 genomes | rs28374544 |
hgdp | rs28374544 |
ensembl | rs28374544 |
geneview | rs28374544 |
scholar | rs28374544 |
rs28374544 | |
pharmgkb | rs28374544 |
gwascentral | rs28374544 |
openSNP | rs28374544 |
23andMe | rs28374544 |
SNPshot | rs28374544 |
SNPdbe | rs28374544 |
MSV3d | rs28374544 |
GWAS Ctlg | rs28374544 |
GMAF | 0.03306 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs28374544(G;G) |
Alt | rs28374544(G;G) |
Reference | Rs28374544(A;A) |
Significance | Pathogenic |
Disease | Tetralogy of Fallot 46 |
Variation | info |
Gene | ZFPM2 ZFPM2-AS1 |
CLNDBN | Tetralogy of Fallot 46,XY sex reversal 9 |
Reversed | 0 |
HGVS | NC_000008.10:g.106814279A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006501.2, RCV000467901.1, |