rs755799430
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs755799430(A;A) |
Make rs755799430(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 74259689 |
Gene | VSX2 |
is a | snp |
is | mentioned by |
dbSNP | rs755799430 |
dbSNP (classic) | rs755799430 |
ClinGen | rs755799430 |
ebi | rs755799430 |
HLI | rs755799430 |
Exac | rs755799430 |
Gnomad | rs755799430 |
Varsome | rs755799430 |
LitVar | rs755799430 |
Map | rs755799430 |
PheGenI | rs755799430 |
Biobank | rs755799430 |
1000 genomes | rs755799430 |
hgdp | rs755799430 |
ensembl | rs755799430 |
geneview | rs755799430 |
scholar | rs755799430 |
rs755799430 | |
pharmgkb | rs755799430 |
gwascentral | rs755799430 |
openSNP | rs755799430 |
23andMe | rs755799430 |
SNPshot | rs755799430 |
SNPdbe | rs755799430 |
MSV3d | rs755799430 |
GWAS Ctlg | rs755799430 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs755799430(A;A) |
Alt | rs755799430(A;A) |
Reference | Rs755799430(G;G) |
Significance | Pathogenic |
Disease | Anophthalmia - microphthalmia |
Variation | info |
Gene | VSX2 |
CLNDBN | Anophthalmia - microphthalmia |
Reversed | 0 |
HGVS | NC_000014.8:g.74726392G>A |
CLNSRC | |
CLNACC | RCV000207355.1, |