rs78657866
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs78657866(A;A) |
Make rs78657866(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 44374470 |
Gene | ITGA2B |
is a | snp |
is | mentioned by |
dbSNP | rs78657866 |
dbSNP (classic) | rs78657866 |
ClinGen | rs78657866 |
ebi | rs78657866 |
HLI | rs78657866 |
Exac | rs78657866 |
Gnomad | rs78657866 |
Varsome | rs78657866 |
LitVar | rs78657866 |
Map | rs78657866 |
PheGenI | rs78657866 |
Biobank | rs78657866 |
1000 genomes | rs78657866 |
hgdp | rs78657866 |
ensembl | rs78657866 |
geneview | rs78657866 |
scholar | rs78657866 |
rs78657866 | |
pharmgkb | rs78657866 |
gwascentral | rs78657866 |
openSNP | rs78657866 |
23andMe | rs78657866 |
SNPshot | rs78657866 |
SNPdbe | rs78657866 |
MSV3d | rs78657866 |
GWAS Ctlg | rs78657866 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs78657866(A;A) |
Alt | rs78657866(A;A) |
Reference | Rs78657866(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | ITGA2B |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.42451838C>T |
CLNSRC | |
CLNACC | RCV000443560.1, |
[PMID 15099289] Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia.