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rs78218617

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs78218617(C;G)
Make rs78218617(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44380626
GeneITGA2B
is asnp
is mentioned by
dbSNPrs78218617
ebirs78218617
HLIrs78218617
Exacrs78218617
Varsomers78218617
Maprs78218617
PheGenIrs78218617
hapmaprs78218617
1000 genomesrs78218617
hgdprs78218617
ensemblrs78218617
gopubmedrs78218617
geneviewrs78218617
scholarrs78218617
googlers78218617
pharmgkbrs78218617
gwascentralrs78218617
openSNPrs78218617
23andMers78218617
23andMe allrs78218617
SNP Nexus

SNPshotrs78218617
SNPdbers78218617
MSV3drs78218617
GWAS Ctlgrs78218617
Max Magnitude0
ClinVar
Risk rs78218617(G,T;G,T)
Alt rs78218617(G,T;G,T)
Reference rs78218617(C;C)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42457994G>C
CLNSRC
CLNACC


[PMID 9798966] A frameshift mutation at Gly975 in the transmembrane domain of GPIIb prevents GPIIb-IIIa expression--analysis of two novel mutations in a kindred with type I glanzmann thrombasthenia.