rs770927552
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAGC;AAGC) | 0 | common in clinvar |
Make rs770927552(-;-) |
Make rs770927552(-;AAGC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 10368400 |
Gene | TYK2 |
is a | snp |
is | mentioned by |
dbSNP | rs770927552 |
dbSNP (classic) | rs770927552 |
ClinGen | rs770927552 |
ebi | rs770927552 |
HLI | rs770927552 |
Exac | rs770927552 |
Gnomad | rs770927552 |
Varsome | rs770927552 |
LitVar | rs770927552 |
Map | rs770927552 |
PheGenI | rs770927552 |
Biobank | rs770927552 |
1000 genomes | rs770927552 |
hgdp | rs770927552 |
ensembl | rs770927552 |
geneview | rs770927552 |
scholar | rs770927552 |
rs770927552 | |
pharmgkb | rs770927552 |
gwascentral | rs770927552 |
openSNP | rs770927552 |
23andMe | rs770927552 |
SNPshot | rs770927552 |
SNPdbe | rs770927552 |
MSV3d | rs770927552 |
GWAS Ctlg | rs770927552 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770927552(-;-) |
Alt | rs770927552(-;-) |
Reference | Rs770927552(AAGC;AAGC) |
Significance | Pathogenic |
Disease | Tyrosine kinase 2 deficiency |
Variation | info |
Gene | TYK2 |
CLNDBN | Tyrosine kinase 2 deficiency |
Reversed | 0 |
HGVS | NC_000019.9:g.10479076_10479079delAAGC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014228.25, |