rs606231423
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs606231423(C;T) |
Make rs606231423(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 67692588 |
Gene | GPHN, RDH11 |
is a | snp |
is | mentioned by |
dbSNP | rs606231423 |
dbSNP (classic) | rs606231423 |
ClinGen | rs606231423 |
ebi | rs606231423 |
HLI | rs606231423 |
Exac | rs606231423 |
Gnomad | rs606231423 |
Varsome | rs606231423 |
LitVar | rs606231423 |
Map | rs606231423 |
PheGenI | rs606231423 |
Biobank | rs606231423 |
1000 genomes | rs606231423 |
hgdp | rs606231423 |
ensembl | rs606231423 |
geneview | rs606231423 |
scholar | rs606231423 |
rs606231423 | |
pharmgkb | rs606231423 |
gwascentral | rs606231423 |
openSNP | rs606231423 |
23andMe | rs606231423 |
SNPshot | rs606231423 |
SNPdbe | rs606231423 |
MSV3d | rs606231423 |
GWAS Ctlg | rs606231423 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231423(T;T) |
Alt | rs606231423(T;T) |
Reference | Rs606231423(C;C) |
Significance | Pathogenic |
Disease | Retinal dystrophy |
Variation | info |
Gene | RDH11 |
CLNDBN | Retinal dystrophy, juvenile cataracts, and short stature syndrome |
Reversed | 1 |
HGVS | NC_000014.8:g.68159305G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000148296.4, |