rs387906965
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs387906965(C;C) |
Make rs387906965(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 45931195 |
Gene | FYCO1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906965 |
dbSNP (classic) | rs387906965 |
ClinGen | rs387906965 |
ebi | rs387906965 |
HLI | rs387906965 |
Exac | rs387906965 |
Gnomad | rs387906965 |
Varsome | rs387906965 |
LitVar | rs387906965 |
Map | rs387906965 |
PheGenI | rs387906965 |
Biobank | rs387906965 |
1000 genomes | rs387906965 |
hgdp | rs387906965 |
ensembl | rs387906965 |
geneview | rs387906965 |
scholar | rs387906965 |
rs387906965 | |
pharmgkb | rs387906965 |
gwascentral | rs387906965 |
openSNP | rs387906965 |
23andMe | rs387906965 |
SNPshot | rs387906965 |
SNPdbe | rs387906965 |
MSV3d | rs387906965 |
GWAS Ctlg | rs387906965 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906965(C;C) |
Alt | rs387906965(C;C) |
Reference | Rs387906965(T;T) |
Significance | Pathogenic |
Disease | Cataract |
Variation | info |
Gene | FYCO1 |
CLNDBN | Cataract, autosomal recessive congenital 2 |
Reversed | 1 |
HGVS | NC_000003.11:g.45972687A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023624.3, |