rs398122374
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs398122374(C;C) |
Make rs398122374(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 47307567 |
Gene | ITGB3, THCAT158 |
is a | snp |
is | mentioned by |
dbSNP | rs398122374 |
dbSNP (classic) | rs398122374 |
ClinGen | rs398122374 |
ebi | rs398122374 |
HLI | rs398122374 |
Exac | rs398122374 |
Gnomad | rs398122374 |
Varsome | rs398122374 |
LitVar | rs398122374 |
Map | rs398122374 |
PheGenI | rs398122374 |
Biobank | rs398122374 |
1000 genomes | rs398122374 |
hgdp | rs398122374 |
ensembl | rs398122374 |
geneview | rs398122374 |
scholar | rs398122374 |
rs398122374 | |
pharmgkb | rs398122374 |
gwascentral | rs398122374 |
openSNP | rs398122374 |
23andMe | rs398122374 |
SNPshot | rs398122374 |
SNPdbe | rs398122374 |
MSV3d | rs398122374 |
GWAS Ctlg | rs398122374 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122374(C;C) |
Alt | rs398122374(C;C) |
Reference | Rs398122374(T;T) |
Significance | Pathogenic |
Disease | Platelet-type bleeding disorder 16 |
Variation | info |
Gene | ITGB3 THCAT158 |
CLNDBN | Platelet-type bleeding disorder 16 |
Reversed | 0 |
HGVS | NC_000017.10:g.45384933T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043482.25, |