rs121965035
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GCT;GCT) | 0 | common in clinvar |
Make rs121965035(-;-) |
Make rs121965035(-;GCT) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 124405532 |
Gene | OAT |
is a | snp |
is | mentioned by |
dbSNP | rs121965035 |
dbSNP (classic) | rs121965035 |
ClinGen | rs121965035 |
ebi | rs121965035 |
HLI | rs121965035 |
Exac | rs121965035 |
Gnomad | rs121965035 |
Varsome | rs121965035 |
LitVar | rs121965035 |
Map | rs121965035 |
PheGenI | rs121965035 |
Biobank | rs121965035 |
1000 genomes | rs121965035 |
hgdp | rs121965035 |
ensembl | rs121965035 |
geneview | rs121965035 |
scholar | rs121965035 |
rs121965035 | |
pharmgkb | rs121965035 |
gwascentral | rs121965035 |
openSNP | rs121965035 |
23andMe | rs121965035 |
SNPshot | rs121965035 |
SNPdbe | rs121965035 |
MSV3d | rs121965035 |
GWAS Ctlg | rs121965035 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121965035(-;-) |
Alt | rs121965035(-;-) |
Reference | Rs121965035(GCT;GCT) |
Significance | Pathogenic |
Disease | Ornithine aminotransferase deficiency |
Variation | info |
Gene | OAT |
CLNDBN | Ornithine aminotransferase deficiency |
Reversed | 1 |
HGVS | NC_000010.10:g.126094101_126094103delAGC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000171.3, |