rs76572092
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TACTGTGGTG;TACTGTGGTG) | 0 | common in clinvar |
Make rs76572092(-;-) |
Make rs76572092(-;TACTGTGGTG) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 44375082 |
Gene | ITGA2B |
is a | snp |
is | mentioned by |
dbSNP | rs76572092 |
dbSNP (classic) | rs76572092 |
ClinGen | rs76572092 |
ebi | rs76572092 |
HLI | rs76572092 |
Exac | rs76572092 |
Gnomad | rs76572092 |
Varsome | rs76572092 |
LitVar | rs76572092 |
Map | rs76572092 |
PheGenI | rs76572092 |
Biobank | rs76572092 |
1000 genomes | rs76572092 |
hgdp | rs76572092 |
ensembl | rs76572092 |
geneview | rs76572092 |
scholar | rs76572092 |
rs76572092 | |
pharmgkb | rs76572092 |
gwascentral | rs76572092 |
openSNP | rs76572092 |
23andMe | rs76572092 |
SNPshot | rs76572092 |
SNPdbe | rs76572092 |
MSV3d | rs76572092 |
GWAS Ctlg | rs76572092 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs76572092(TACTGTGGTG;TACTGTGGTG) |
Significance | Pathogenic |
Disease | Glanzmann's thrombasthenia |
Variation | info |
Gene | ITGA2B |
CLNDBN | Glanzmann's thrombasthenia |
Reversed | 1 |
HGVS | NC_000017.10:g.42452450_42452459delCACCACAGTA |
CLNSRC | |
CLNACC |