rs66737144
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs66737144(G;T) |
Make rs66737144(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 38381430 |
Gene | OTC |
is a | snp |
is | mentioned by |
dbSNP | rs66737144 |
dbSNP (classic) | rs66737144 |
ClinGen | rs66737144 |
ebi | rs66737144 |
HLI | rs66737144 |
Exac | rs66737144 |
Gnomad | rs66737144 |
Varsome | rs66737144 |
LitVar | rs66737144 |
Map | rs66737144 |
PheGenI | rs66737144 |
Biobank | rs66737144 |
1000 genomes | rs66737144 |
hgdp | rs66737144 |
ensembl | rs66737144 |
geneview | rs66737144 |
scholar | rs66737144 |
rs66737144 | |
pharmgkb | rs66737144 |
gwascentral | rs66737144 |
openSNP | rs66737144 |
23andMe | rs66737144 |
SNPshot | rs66737144 |
SNPdbe | rs66737144 |
MSV3d | rs66737144 |
GWAS Ctlg | rs66737144 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs66737144(A;A) rs66737144(T;T) |
Alt | rs66737144(A;A) rs66737144(T;T) |
Reference | Rs66737144(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | OTC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.38240683G>A; NC_000023.10:g.38240683G>T |
CLNSRC | ClinVar |
CLNACC | RCV000083411.1, RCV000083412.1, |
[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.