rs766503255
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs766503255(G;T) |
Make rs766503255(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 44372408 |
Gene | ITGA2B |
is a | snp |
is | mentioned by |
dbSNP | rs766503255 |
dbSNP (classic) | rs766503255 |
ClinGen | rs766503255 |
ebi | rs766503255 |
HLI | rs766503255 |
Exac | rs766503255 |
Gnomad | rs766503255 |
Varsome | rs766503255 |
LitVar | rs766503255 |
Map | rs766503255 |
PheGenI | rs766503255 |
Biobank | rs766503255 |
1000 genomes | rs766503255 |
hgdp | rs766503255 |
ensembl | rs766503255 |
geneview | rs766503255 |
scholar | rs766503255 |
rs766503255 | |
pharmgkb | rs766503255 |
gwascentral | rs766503255 |
openSNP | rs766503255 |
23andMe | rs766503255 |
SNPshot | rs766503255 |
SNPdbe | rs766503255 |
MSV3d | rs766503255 |
GWAS Ctlg | rs766503255 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs766503255(A;A) rs766503255(T;T) |
Alt | rs766503255(A;A) rs766503255(T;T) |
Reference | Rs766503255(G;G) |
Significance | Pathogenic |
Disease | Platelet-type bleeding disorder 16 |
Variation | info |
Gene | ITGA2B |
CLNDBN | Platelet-type bleeding disorder 16 |
Reversed | 0 |
HGVS | NC_000017.10:g.42449776G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043486.4, |