rs76562369
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TAAGT;TAAGT) | 0 | common in clinvar |
Make rs76562369(-;-) |
Make rs76562369(-;A) |
Make rs76562369(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 47290277 |
Gene | ITGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs76562369 |
dbSNP (classic) | rs76562369 |
ClinGen | rs76562369 |
ebi | rs76562369 |
HLI | rs76562369 |
Exac | rs76562369 |
Gnomad | rs76562369 |
Varsome | rs76562369 |
LitVar | rs76562369 |
Map | rs76562369 |
PheGenI | rs76562369 |
Biobank | rs76562369 |
1000 genomes | rs76562369 |
hgdp | rs76562369 |
ensembl | rs76562369 |
geneview | rs76562369 |
scholar | rs76562369 |
rs76562369 | |
pharmgkb | rs76562369 |
gwascentral | rs76562369 |
openSNP | rs76562369 |
23andMe | rs76562369 |
SNPshot | rs76562369 |
SNPdbe | rs76562369 |
MSV3d | rs76562369 |
GWAS Ctlg | rs76562369 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs76562369(T;T) rs76562369(TA;TA) |
Alt | rs76562369(T;T) rs76562369(TA;TA) |
Reference | Rs76562369(TAAGT;TAAGT) |
Significance | Pathogenic |
Disease | Glanzmann's thrombasthenia |
Variation | info |
Gene | ITGB3 |
CLNDBN | Glanzmann's thrombasthenia |
Reversed | 0 |
HGVS | NC_000017.10:g.45367643_45367646delAAGT |
CLNSRC | |
CLNACC |