rs17849654
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs17849654(A;T) |
Make rs17849654(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 40808575 |
Gene | SLC25A15, TPTE2P5 |
is a | snp |
is | mentioned by |
dbSNP | rs17849654 |
dbSNP (classic) | rs17849654 |
ClinGen | rs17849654 |
ebi | rs17849654 |
HLI | rs17849654 |
Exac | rs17849654 |
Gnomad | rs17849654 |
Varsome | rs17849654 |
LitVar | rs17849654 |
Map | rs17849654 |
PheGenI | rs17849654 |
Biobank | rs17849654 |
1000 genomes | rs17849654 |
hgdp | rs17849654 |
ensembl | rs17849654 |
geneview | rs17849654 |
scholar | rs17849654 |
rs17849654 | |
pharmgkb | rs17849654 |
gwascentral | rs17849654 |
openSNP | rs17849654 |
23andMe | rs17849654 |
SNPshot | rs17849654 |
SNPdbe | rs17849654 |
MSV3d | rs17849654 |
GWAS Ctlg | rs17849654 |
GMAF | 0.3535 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs17849654(T;T) |
Alt | rs17849654(T;T) |
Reference | Rs17849654(A;A) |
Significance | Non-pathogenic |
Disease | not specified Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
Variation | info |
Gene | SLC25A15 TPTE2P5 |
CLNDBN | not specified Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.41382711A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000128071.2, RCV000273122.1, |