rs121908601
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121908601(A;G) |
Make rs121908601(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 105419192 |
Gene | ZFPM2 |
is a | snp |
is | mentioned by |
dbSNP | rs121908601 |
dbSNP (classic) | rs121908601 |
ClinGen | rs121908601 |
ebi | rs121908601 |
HLI | rs121908601 |
Exac | rs121908601 |
Gnomad | rs121908601 |
Varsome | rs121908601 |
LitVar | rs121908601 |
Map | rs121908601 |
PheGenI | rs121908601 |
Biobank | rs121908601 |
1000 genomes | rs121908601 |
hgdp | rs121908601 |
ensembl | rs121908601 |
geneview | rs121908601 |
scholar | rs121908601 |
rs121908601 | |
pharmgkb | rs121908601 |
gwascentral | rs121908601 |
openSNP | rs121908601 |
23andMe | rs121908601 |
SNPshot | rs121908601 |
SNPdbe | rs121908601 |
MSV3d | rs121908601 |
GWAS Ctlg | rs121908601 |
GMAF | 0.002296 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908601(G;G) |
Alt | rs121908601(G;G) |
Reference | Rs121908601(A;A) |
Significance | Pathogenic |
Disease | Tetralogy of Fallot Double outlet right ventricle Diaphragmatic hernia 3 46 |
Variation | info |
Gene | ZFPM2 |
CLNDBN | Tetralogy of Fallot Double outlet right ventricle Diaphragmatic hernia 3 46,XY sex reversal 9 |
Reversed | 0 |
HGVS | NC_000008.10:g.106431420A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006502.3, RCV000032713.3, RCV000172841.2, RCV000461090.1, |