rs879253732
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs879253732(-;-) |
Make rs879253732(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 10378258 |
Gene | TYK2 |
is a | snp |
is | mentioned by |
dbSNP | rs879253732 |
dbSNP (classic) | rs879253732 |
ClinGen | rs879253732 |
ebi | rs879253732 |
HLI | rs879253732 |
Exac | rs879253732 |
Gnomad | rs879253732 |
Varsome | rs879253732 |
LitVar | rs879253732 |
Map | rs879253732 |
PheGenI | rs879253732 |
Biobank | rs879253732 |
1000 genomes | rs879253732 |
hgdp | rs879253732 |
ensembl | rs879253732 |
geneview | rs879253732 |
scholar | rs879253732 |
rs879253732 | |
pharmgkb | rs879253732 |
gwascentral | rs879253732 |
openSNP | rs879253732 |
23andMe | rs879253732 |
SNPshot | rs879253732 |
SNPdbe | rs879253732 |
MSV3d | rs879253732 |
GWAS Ctlg | rs879253732 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253732(-;-) |
Alt | rs879253732(-;-) |
Reference | Rs879253732(C;C) |
Significance | Pathogenic |
Disease | Tyrosine kinase 2 deficiency |
Variation | info |
Gene | TYK2 |
CLNDBN | Tyrosine kinase 2 deficiency |
Reversed | 1 |
HGVS | NC_000019.9:g.10488934delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210451.1, |