rs121908535
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908535(C;T) |
Make rs121908535(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 40809576 |
Gene | MIR621, SLC25A15, TPTE2P5 |
is a | snp |
is | mentioned by |
dbSNP | rs121908535 |
dbSNP (classic) | rs121908535 |
ClinGen | rs121908535 |
ebi | rs121908535 |
HLI | rs121908535 |
Exac | rs121908535 |
Gnomad | rs121908535 |
Varsome | rs121908535 |
LitVar | rs121908535 |
Map | rs121908535 |
PheGenI | rs121908535 |
Biobank | rs121908535 |
1000 genomes | rs121908535 |
hgdp | rs121908535 |
ensembl | rs121908535 |
geneview | rs121908535 |
scholar | rs121908535 |
rs121908535 | |
pharmgkb | rs121908535 |
gwascentral | rs121908535 |
openSNP | rs121908535 |
23andMe | rs121908535 |
SNPshot | rs121908535 |
SNPdbe | rs121908535 |
MSV3d | rs121908535 |
GWAS Ctlg | rs121908535 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908535(T;T) |
Alt | rs121908535(T;T) |
Reference | Rs121908535(C;C) |
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.41383712C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006365.1, |