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rs879255514

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879255514(A;A)
Make rs879255514(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position44372407
GeneITGA2B
is asnp
is mentioned by
dbSNPrs879255514
dbSNP (classic)rs879255514
ClinGenrs879255514
ebirs879255514
HLIrs879255514
Exacrs879255514
Gnomadrs879255514
Varsomers879255514
LitVarrs879255514
Maprs879255514
PheGenIrs879255514
Biobankrs879255514
1000 genomesrs879255514
hgdprs879255514
ensemblrs879255514
geneviewrs879255514
scholarrs879255514
googlers879255514
pharmgkbrs879255514
gwascentralrs879255514
openSNPrs879255514
23andMers879255514
SNPshotrs879255514
SNPdbers879255514
MSV3drs879255514
GWAS Ctlgrs879255514
Max Magnitude0
ClinVar
Risk rs879255514(A;A)
Alt rs879255514(A;A)
Reference Rs879255514(G;G)
Significance Pathogenic
Disease Platelet-type bleeding disorder 16
Variation info
Gene ITGA2B
CLNDBN Platelet-type bleeding disorder 16
Reversed 1
HGVS NC_000017.10:g.42449775C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043485.4,