rs139353014
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs139353014(C;T) |
Make rs139353014(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 208163217 |
Gene | CRYGA |
is a | snp |
is | mentioned by |
dbSNP | rs139353014 |
dbSNP (classic) | rs139353014 |
ClinGen | rs139353014 |
ebi | rs139353014 |
HLI | rs139353014 |
Exac | rs139353014 |
Gnomad | rs139353014 |
Varsome | rs139353014 |
LitVar | rs139353014 |
Map | rs139353014 |
PheGenI | rs139353014 |
Biobank | rs139353014 |
1000 genomes | rs139353014 |
hgdp | rs139353014 |
ensembl | rs139353014 |
geneview | rs139353014 |
scholar | rs139353014 |
rs139353014 | |
pharmgkb | rs139353014 |
gwascentral | rs139353014 |
openSNP | rs139353014 |
23andMe | rs139353014 |
SNPshot | rs139353014 |
SNPdbe | rs139353014 |
MSV3d | rs139353014 |
GWAS Ctlg | rs139353014 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139353014(T;T) |
Alt | rs139353014(T;T) |
Reference | Rs139353014(C;C) |
Significance | Pathogenic |
Disease | Congenital cataract |
Variation | info |
Gene | CRYGA |
CLNDBN | Congenital cataract |
Reversed | 0 |
HGVS | NC_000002.11:g.209027941C>T |
CLNSRC | |
CLNACC | RCV000490784.1, |