rs137853200
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137853200(C;T) |
Make rs137853200(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 16129440 |
Gene | EPHA2 |
is a | snp |
is | mentioned by |
dbSNP | rs137853200 |
dbSNP (classic) | rs137853200 |
ClinGen | rs137853200 |
ebi | rs137853200 |
HLI | rs137853200 |
Exac | rs137853200 |
Gnomad | rs137853200 |
Varsome | rs137853200 |
LitVar | rs137853200 |
Map | rs137853200 |
PheGenI | rs137853200 |
Biobank | rs137853200 |
1000 genomes | rs137853200 |
hgdp | rs137853200 |
ensembl | rs137853200 |
geneview | rs137853200 |
scholar | rs137853200 |
rs137853200 | |
pharmgkb | rs137853200 |
gwascentral | rs137853200 |
openSNP | rs137853200 |
23andMe | rs137853200 |
SNPshot | rs137853200 |
SNPdbe | rs137853200 |
MSV3d | rs137853200 |
GWAS Ctlg | rs137853200 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853200(T;T) |
Alt | rs137853200(T;T) |
Reference | Rs137853200(C;C) |
Significance | Pathogenic |
Disease | Cataract 6 |
Variation | info |
Gene | EPHA2 |
CLNDBN | Cataract 6, multiple types |
Reversed | 1 |
HGVS | NC_000001.10:g.16455935G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014169.18, |