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rs76811038

From SNPedia

Glanzmann's thrombasthenia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 3 Glanzmann's thromboasthenia
(C;T) 2 Carrier of a Glanzmann's thromboasthenia allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome17
Position44379780
GeneITGA2B
is asnp
is mentioned by
dbSNPrs76811038
ebirs76811038
HLIrs76811038
Exacrs76811038
Varsomers76811038
Maprs76811038
PheGenIrs76811038
hapmaprs76811038
1000 genomesrs76811038
hgdprs76811038
ensemblrs76811038
gopubmedrs76811038
geneviewrs76811038
scholarrs76811038
googlers76811038
pharmgkbrs76811038
gwascentralrs76811038
openSNPrs76811038
23andMers76811038
23andMe allrs76811038
SNP Nexus

SNPshotrs76811038
SNPdbers76811038
MSV3drs76811038
GWAS Ctlgrs76811038
Max Magnitude3

Glanzmann's thrombasthenia

OMIM607759
Desc
Variant0013
Relatedalso
OMIM273800
Desc
Variant
Relatedalso
ClinVar
Risk rs76811038(C;C)
Alt rs76811038(C;C)
Reference rs76811038(T;T)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42457148A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003034.2, RCV000198077.1,


[PMID 9734640] Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia.


[PMID 9920835] Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes.