rs121908059
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908059(C;T) |
Make rs121908059(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 18281139 |
Gene | TMPRSS15 |
is a | snp |
is | mentioned by |
dbSNP | rs121908059 |
dbSNP (classic) | rs121908059 |
ClinGen | rs121908059 |
ebi | rs121908059 |
HLI | rs121908059 |
Exac | rs121908059 |
Gnomad | rs121908059 |
Varsome | rs121908059 |
LitVar | rs121908059 |
Map | rs121908059 |
PheGenI | rs121908059 |
Biobank | rs121908059 |
1000 genomes | rs121908059 |
hgdp | rs121908059 |
ensembl | rs121908059 |
geneview | rs121908059 |
scholar | rs121908059 |
rs121908059 | |
pharmgkb | rs121908059 |
gwascentral | rs121908059 |
openSNP | rs121908059 |
23andMe | rs121908059 |
SNPshot | rs121908059 |
SNPdbe | rs121908059 |
MSV3d | rs121908059 |
GWAS Ctlg | rs121908059 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908059(T;T) |
Alt | rs121908059(T;T) |
Reference | Rs121908059(C;C) |
Significance | Pathogenic |
Disease | Enterokinase deficiency |
Variation | info |
Gene | TMPRSS15 |
CLNDBN | Enterokinase deficiency |
Reversed | 1 |
HGVS | NC_000021.8:g.19653456G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004382.3, |