rs77229108
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs77229108(A;G) |
Make rs77229108(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 44378712 |
Gene | ITGA2B |
is a | snp |
is | mentioned by |
dbSNP | rs77229108 |
dbSNP (classic) | rs77229108 |
ClinGen | rs77229108 |
ebi | rs77229108 |
HLI | rs77229108 |
Exac | rs77229108 |
Gnomad | rs77229108 |
Varsome | rs77229108 |
LitVar | rs77229108 |
Map | rs77229108 |
PheGenI | rs77229108 |
Biobank | rs77229108 |
1000 genomes | rs77229108 |
hgdp | rs77229108 |
ensembl | rs77229108 |
geneview | rs77229108 |
scholar | rs77229108 |
rs77229108 | |
pharmgkb | rs77229108 |
gwascentral | rs77229108 |
openSNP | rs77229108 |
23andMe | rs77229108 |
SNPshot | rs77229108 |
SNPdbe | rs77229108 |
MSV3d | rs77229108 |
GWAS Ctlg | rs77229108 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs77229108(G;G) |
Alt | rs77229108(G;G) |
Reference | Rs77229108(A;A) |
Significance | Pathogenic |
Disease | Glanzmann's thrombasthenia |
Variation | info |
Gene | ITGA2B |
CLNDBN | Glanzmann's thrombasthenia |
Reversed | 1 |
HGVS | NC_000017.10:g.42456080T>C |
CLNSRC | |
CLNACC |