rs879255537
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs879255537(-;G) |
Make rs879255537(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 51792072 |
Gene | SALL4 |
is a | snp |
is | mentioned by |
dbSNP | rs879255537 |
dbSNP (classic) | rs879255537 |
ClinGen | rs879255537 |
ebi | rs879255537 |
HLI | rs879255537 |
Exac | rs879255537 |
Gnomad | rs879255537 |
Varsome | rs879255537 |
LitVar | rs879255537 |
Map | rs879255537 |
PheGenI | rs879255537 |
Biobank | rs879255537 |
1000 genomes | rs879255537 |
hgdp | rs879255537 |
ensembl | rs879255537 |
geneview | rs879255537 |
scholar | rs879255537 |
rs879255537 | |
pharmgkb | rs879255537 |
gwascentral | rs879255537 |
openSNP | rs879255537 |
23andMe | rs879255537 |
SNPshot | rs879255537 |
SNPdbe | rs879255537 |
MSV3d | rs879255537 |
GWAS Ctlg | rs879255537 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255537(G;G) |
Alt | rs879255537(G;G) |
Reference | Rs879255537(-;-) |
Significance | Pathogenic |
Disease | Duane-radial ray syndrome |
Variation | info |
Gene | SALL4 |
CLNDBN | Duane-radial ray syndrome |
Reversed | 1 |
HGVS | NC_000020.10:g.50408612dupC |
CLNSRC | |
CLNACC | RCV000239600.1, |