rs879253738
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs879253738(C;T) |
Make rs879253738(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 173366304 |
Gene | CDCA7 |
is a | snp |
is | mentioned by |
dbSNP | rs879253738 |
dbSNP (classic) | rs879253738 |
ClinGen | rs879253738 |
ebi | rs879253738 |
HLI | rs879253738 |
Exac | rs879253738 |
Gnomad | rs879253738 |
Varsome | rs879253738 |
LitVar | rs879253738 |
Map | rs879253738 |
PheGenI | rs879253738 |
Biobank | rs879253738 |
1000 genomes | rs879253738 |
hgdp | rs879253738 |
ensembl | rs879253738 |
geneview | rs879253738 |
scholar | rs879253738 |
rs879253738 | |
pharmgkb | rs879253738 |
gwascentral | rs879253738 |
openSNP | rs879253738 |
23andMe | rs879253738 |
SNPshot | rs879253738 |
SNPdbe | rs879253738 |
MSV3d | rs879253738 |
GWAS Ctlg | rs879253738 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253738(T;T) |
Alt | rs879253738(T;T) |
Reference | Rs879253738(C;C) |
Significance | Pathogenic |
Disease | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 |
Variation | info |
Gene | CDCA7 |
CLNDBN | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 |
Reversed | 0 |
HGVS | NC_000002.11:g.174231032C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210913.1, |