rs121965044
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121965044(C;T) |
Make rs121965044(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 124398012 |
Gene | OAT |
is a | snp |
is | mentioned by |
dbSNP | rs121965044 |
dbSNP (classic) | rs121965044 |
ClinGen | rs121965044 |
ebi | rs121965044 |
HLI | rs121965044 |
Exac | rs121965044 |
Gnomad | rs121965044 |
Varsome | rs121965044 |
LitVar | rs121965044 |
Map | rs121965044 |
PheGenI | rs121965044 |
Biobank | rs121965044 |
1000 genomes | rs121965044 |
hgdp | rs121965044 |
ensembl | rs121965044 |
geneview | rs121965044 |
scholar | rs121965044 |
rs121965044 | |
pharmgkb | rs121965044 |
gwascentral | rs121965044 |
openSNP | rs121965044 |
23andMe | rs121965044 |
SNPshot | rs121965044 |
SNPdbe | rs121965044 |
MSV3d | rs121965044 |
GWAS Ctlg | rs121965044 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121965044(T;T) |
Alt | rs121965044(T;T) |
Reference | Rs121965044(C;C) |
Significance | Other |
Disease | Ornithine aminotransferase deficiency |
Variation | info |
Gene | OAT |
CLNDBN | Ornithine aminotransferase deficiency |
Reversed | 1 |
HGVS | NC_000010.10:g.126086581G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000180.5, |
[PMID 23076989] Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.