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rs879255508

From SNPedia

Orientationminus
Geno Mag Summary
(AGGCCTGCGCCCC;AGGCCTGCGCCCC) 0 common in clinvar
Make rs879255508(-;-)
Make rs879255508(-;AGGCCTGCGCCCC)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position44385706
GeneITGA2B
is asnp
is mentioned by
dbSNPrs879255508
ebirs879255508
HLIrs879255508
Exacrs879255508
Varsomers879255508
Maprs879255508
PheGenIrs879255508
hapmaprs879255508
1000 genomesrs879255508
hgdprs879255508
ensemblrs879255508
gopubmedrs879255508
geneviewrs879255508
scholarrs879255508
googlers879255508
pharmgkbrs879255508
gwascentralrs879255508
openSNPrs879255508
23andMers879255508
23andMe allrs879255508
SNP Nexus

SNPshotrs879255508
SNPdbers879255508
MSV3drs879255508
GWAS Ctlgrs879255508
Max Magnitude0
ClinVar
Risk rs879255508(;)
Alt rs879255508(;)
Reference rs879255508(AGGCCTGCGCCCC;AGGCCTGCGCCCC)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42463074_42463086delGGGGCGCAGGCCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000003023.2,