rs138221037
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs138221037(A;C) |
Make rs138221037(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 21 |
Position | 18343504 |
Gene | TMPRSS15 |
is a | snp |
is | mentioned by |
dbSNP | rs138221037 |
dbSNP (classic) | rs138221037 |
ClinGen | rs138221037 |
ebi | rs138221037 |
HLI | rs138221037 |
Exac | rs138221037 |
Gnomad | rs138221037 |
Varsome | rs138221037 |
LitVar | rs138221037 |
Map | rs138221037 |
PheGenI | rs138221037 |
Biobank | rs138221037 |
1000 genomes | rs138221037 |
hgdp | rs138221037 |
ensembl | rs138221037 |
geneview | rs138221037 |
scholar | rs138221037 |
rs138221037 | |
pharmgkb | rs138221037 |
gwascentral | rs138221037 |
openSNP | rs138221037 |
23andMe | rs138221037 |
SNPshot | rs138221037 |
SNPdbe | rs138221037 |
MSV3d | rs138221037 |
GWAS Ctlg | rs138221037 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138221037(C;C) |
Alt | rs138221037(C;C) |
Reference | Rs138221037(A;A) |
Significance | Pathogenic |
Disease | Enterokinase deficiency |
Variation | info |
Gene | TMPRSS15 |
CLNDBN | Enterokinase deficiency |
Reversed | 0 |
HGVS | NC_000021.8:g.19715821A>C |
CLNSRC | |
CLNACC | RCV000184055.1, |