rs11543934
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs11543934(A;A) |
Make rs11543934(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 16138117 |
Gene | EPHA2 |
is a | snp |
is | mentioned by |
dbSNP | rs11543934 |
dbSNP (classic) | rs11543934 |
ClinGen | rs11543934 |
ebi | rs11543934 |
HLI | rs11543934 |
Exac | rs11543934 |
Gnomad | rs11543934 |
Varsome | rs11543934 |
LitVar | rs11543934 |
Map | rs11543934 |
PheGenI | rs11543934 |
Biobank | rs11543934 |
1000 genomes | rs11543934 |
hgdp | rs11543934 |
ensembl | rs11543934 |
geneview | rs11543934 |
scholar | rs11543934 |
rs11543934 | |
pharmgkb | rs11543934 |
gwascentral | rs11543934 |
openSNP | rs11543934 |
23andMe | rs11543934 |
SNPshot | rs11543934 |
SNPdbe | rs11543934 |
MSV3d | rs11543934 |
GWAS Ctlg | rs11543934 |
Max Magnitude | 0 |
[PMID 22829731] Screening and structural evaluation of deleterious Non-Synonymous SNPs of ePHA2 gene involved in susceptibility to cataract formation
ClinVar | |
---|---|
Risk | rs11543934(A;A) |
Alt | rs11543934(A;A) |
Reference | Rs11543934(C;C) |
Significance | Probable-non-pathogenic |
Disease | Age-related cortical cataract |
Variation | info |
Gene | EPHA2 |
CLNDBN | Age-related cortical cataract |
Reversed | 1 |
HGVS | NC_000001.10:g.16464612G>T |
CLNSRC | |
CLNACC | RCV000340843.1, |