rs74315428
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs74315428(C;T) |
Make rs74315428(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 51788890 |
Gene | SALL4 |
is a | snp |
is | mentioned by |
dbSNP | rs74315428 |
dbSNP (classic) | rs74315428 |
ClinGen | rs74315428 |
ebi | rs74315428 |
HLI | rs74315428 |
Exac | rs74315428 |
Gnomad | rs74315428 |
Varsome | rs74315428 |
LitVar | rs74315428 |
Map | rs74315428 |
PheGenI | rs74315428 |
Biobank | rs74315428 |
1000 genomes | rs74315428 |
hgdp | rs74315428 |
ensembl | rs74315428 |
geneview | rs74315428 |
scholar | rs74315428 |
rs74315428 | |
pharmgkb | rs74315428 |
gwascentral | rs74315428 |
openSNP | rs74315428 |
23andMe | rs74315428 |
SNPshot | rs74315428 |
SNPdbe | rs74315428 |
MSV3d | rs74315428 |
GWAS Ctlg | rs74315428 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315428(T;T) |
Alt | rs74315428(T;T) |
Reference | Rs74315428(C;C) |
Significance | Pathogenic |
Disease | Duane-radial ray syndrome |
Variation | info |
Gene | SALL4 |
CLNDBN | Duane-radial ray syndrome |
Reversed | 1 |
HGVS | NC_000020.10:g.50405429G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003492.3, |