rs116506614
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs116506614(C;T) |
Make rs116506614(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 16132227 |
Gene | EPHA2 |
is a | snp |
is | mentioned by |
dbSNP | rs116506614 |
dbSNP (classic) | rs116506614 |
ClinGen | rs116506614 |
ebi | rs116506614 |
HLI | rs116506614 |
Exac | rs116506614 |
Gnomad | rs116506614 |
Varsome | rs116506614 |
LitVar | rs116506614 |
Map | rs116506614 |
PheGenI | rs116506614 |
Biobank | rs116506614 |
1000 genomes | rs116506614 |
hgdp | rs116506614 |
ensembl | rs116506614 |
geneview | rs116506614 |
scholar | rs116506614 |
rs116506614 | |
pharmgkb | rs116506614 |
gwascentral | rs116506614 |
openSNP | rs116506614 |
23andMe | rs116506614 |
SNPshot | rs116506614 |
SNPdbe | rs116506614 |
MSV3d | rs116506614 |
GWAS Ctlg | rs116506614 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs116506614(T;T) |
Alt | rs116506614(T;T) |
Reference | Rs116506614(C;C) |
Significance | Pathogenic |
Disease | Cataract 6 Age-related cortical cataract Cortical senile cataract |
Variation | info |
Gene | EPHA2 |
CLNDBN | Cataract 6, age-related cortical Age-related cortical cataract Cortical senile cataract |
Reversed | 0 |
HGVS | NC_000001.10:g.16458722C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014172.24, RCV000368763.1, RCV000442224.1, |