rs118203992
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs118203992(A;A) |
Make rs118203992(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 46335766 |
Gene | TRMU |
is a | snp |
is | mentioned by |
dbSNP | rs118203992 |
dbSNP (classic) | rs118203992 |
ClinGen | rs118203992 |
ebi | rs118203992 |
HLI | rs118203992 |
Exac | rs118203992 |
Gnomad | rs118203992 |
Varsome | rs118203992 |
LitVar | rs118203992 |
Map | rs118203992 |
PheGenI | rs118203992 |
Biobank | rs118203992 |
1000 genomes | rs118203992 |
hgdp | rs118203992 |
ensembl | rs118203992 |
geneview | rs118203992 |
scholar | rs118203992 |
rs118203992 | |
pharmgkb | rs118203992 |
gwascentral | rs118203992 |
openSNP | rs118203992 |
23andMe | rs118203992 |
SNPshot | rs118203992 |
SNPdbe | rs118203992 |
MSV3d | rs118203992 |
GWAS Ctlg | rs118203992 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203992(A;A) rs118203992(C;C) rs118203992(G;G) |
Alt | rs118203992(A;A) rs118203992(C;C) rs118203992(G;G) |
Reference | Rs118203992(T;T) |
Significance | Pathogenic |
Disease | Liver failure acute infantile not provided |
Variation | info |
Gene | TRMU |
CLNDBN | Liver failure acute infantile not provided |
Reversed | 0 |
HGVS | NC_000022.10:g.46731663T>A; NC_000022.10:g.46731663T>C; NC_000022.10:g.46731663T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001357.2, RCV000402876.1, RCV000198888.1, |