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rs879255509

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879255509(A;A)
Make rs879255509(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position44380385
GeneITGA2B
is asnp
is mentioned by
dbSNPrs879255509
dbSNP (classic)rs879255509
ClinGenrs879255509
ebirs879255509
HLIrs879255509
Exacrs879255509
Gnomadrs879255509
Varsomers879255509
LitVarrs879255509
Maprs879255509
PheGenIrs879255509
Biobankrs879255509
1000 genomesrs879255509
hgdprs879255509
ensemblrs879255509
geneviewrs879255509
scholarrs879255509
googlers879255509
pharmgkbrs879255509
gwascentralrs879255509
openSNPrs879255509
23andMers879255509
SNPshotrs879255509
SNPdbers879255509
MSV3drs879255509
GWAS Ctlgrs879255509
Max Magnitude0
ClinVar
Risk rs879255509(A;A)
Alt rs879255509(A;A)
Reference Rs879255509(G;G)
Significance Pathogenic
Disease Glanzmann thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42457753C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003029.2,