rs141028076
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs141028076(C;T) |
Make rs141028076(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 40807405 |
Gene | SLC25A15, TPTE2P5 |
is a | snp |
is | mentioned by |
dbSNP | rs141028076 |
dbSNP (classic) | rs141028076 |
ClinGen | rs141028076 |
ebi | rs141028076 |
HLI | rs141028076 |
Exac | rs141028076 |
Gnomad | rs141028076 |
Varsome | rs141028076 |
LitVar | rs141028076 |
Map | rs141028076 |
PheGenI | rs141028076 |
Biobank | rs141028076 |
1000 genomes | rs141028076 |
hgdp | rs141028076 |
ensembl | rs141028076 |
geneview | rs141028076 |
scholar | rs141028076 |
rs141028076 | |
pharmgkb | rs141028076 |
gwascentral | rs141028076 |
openSNP | rs141028076 |
23andMe | rs141028076 |
SNPshot | rs141028076 |
SNPdbe | rs141028076 |
MSV3d | rs141028076 |
GWAS Ctlg | rs141028076 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141028076(G;G) rs141028076(T;T) |
Alt | rs141028076(G;G) rs141028076(T;T) |
Reference | Rs141028076(C;C) |
Significance | Pathogenic |
Disease | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome not specified |
Variation | info |
Gene | SLC25A15 TPTE2P5 |
CLNDBN | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome not specified |
Reversed | 0 |
HGVS | NC_000013.10:g.41381541C>G; NC_000013.10:g.41381541C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000031951.1, RCV000434750.1, |