rs121965059
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121965059(C;T) |
Make rs121965059(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 124403892 |
Gene | OAT |
is a | snp |
is | mentioned by |
dbSNP | rs121965059 |
dbSNP (classic) | rs121965059 |
ClinGen | rs121965059 |
ebi | rs121965059 |
HLI | rs121965059 |
Exac | rs121965059 |
Gnomad | rs121965059 |
Varsome | rs121965059 |
LitVar | rs121965059 |
Map | rs121965059 |
PheGenI | rs121965059 |
Biobank | rs121965059 |
1000 genomes | rs121965059 |
hgdp | rs121965059 |
ensembl | rs121965059 |
geneview | rs121965059 |
scholar | rs121965059 |
rs121965059 | |
pharmgkb | rs121965059 |
gwascentral | rs121965059 |
openSNP | rs121965059 |
23andMe | rs121965059 |
SNPshot | rs121965059 |
SNPdbe | rs121965059 |
MSV3d | rs121965059 |
GWAS Ctlg | rs121965059 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121965059(T;T) |
Alt | rs121965059(T;T) |
Reference | Rs121965059(C;C) |
Significance | Pathogenic |
Disease | Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia |
Variation | info |
Gene | OAT |
CLNDBN | Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia |
Reversed | 1 |
HGVS | NC_000010.10:g.126092461G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000204.2, |