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rs75028796

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs75028796(-;-)
Make rs75028796(-;T)
Make rs75028796(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44378676
GeneITGA2B
is asnp
is mentioned by
dbSNPrs75028796
ebirs75028796
HLIrs75028796
Exacrs75028796
Varsomers75028796
Maprs75028796
PheGenIrs75028796
hapmaprs75028796
1000 genomesrs75028796
hgdprs75028796
ensemblrs75028796
gopubmedrs75028796
geneviewrs75028796
scholarrs75028796
googlers75028796
pharmgkbrs75028796
gwascentralrs75028796
openSNPrs75028796
23andMers75028796
23andMe allrs75028796
SNP Nexus

SNPshotrs75028796
SNPdbers75028796
MSV3drs75028796
GWAS Ctlgrs75028796
Max Magnitude0
ClinVar
Risk rs75028796(T;T)
Alt rs75028796(T;T)
Reference rs75028796(;)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42456044_42456045insA
CLNSRC
CLNACC


[PMID 12083483] Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients.