rs202247808
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs202247808(A;A) |
Make rs202247808(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 40809579 |
Gene | MIR621, SLC25A15, TPTE2P5 |
is a | snp |
is | mentioned by |
dbSNP | rs202247808 |
dbSNP (classic) | rs202247808 |
ClinGen | rs202247808 |
ebi | rs202247808 |
HLI | rs202247808 |
Exac | rs202247808 |
Gnomad | rs202247808 |
Varsome | rs202247808 |
LitVar | rs202247808 |
Map | rs202247808 |
PheGenI | rs202247808 |
Biobank | rs202247808 |
1000 genomes | rs202247808 |
hgdp | rs202247808 |
ensembl | rs202247808 |
geneview | rs202247808 |
scholar | rs202247808 |
rs202247808 | |
pharmgkb | rs202247808 |
gwascentral | rs202247808 |
openSNP | rs202247808 |
23andMe | rs202247808 |
SNPshot | rs202247808 |
SNPdbe | rs202247808 |
MSV3d | rs202247808 |
GWAS Ctlg | rs202247808 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202247808(A;A) |
Alt | rs202247808(A;A) |
Reference | Rs202247808(T;T) |
Significance | Pathogenic |
Disease | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
Variation | info |
Gene | SLC25A15 MIR621 TPTE2P5 |
CLNDBN | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.41383715T>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000031954.1, |