Have questions? Visit https://www.reddit.com/r/SNPedia

rs78165611

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs78165611(A;A)
Make rs78165611(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44374449
GeneITGA2B
is asnp
is mentioned by
dbSNPrs78165611
ebirs78165611
HLIrs78165611
Exacrs78165611
Varsomers78165611
Maprs78165611
PheGenIrs78165611
hapmaprs78165611
1000 genomesrs78165611
hgdprs78165611
ensemblrs78165611
gopubmedrs78165611
geneviewrs78165611
scholarrs78165611
googlers78165611
pharmgkbrs78165611
gwascentralrs78165611
openSNPrs78165611
23andMers78165611
23andMe allrs78165611
SNP Nexus

SNPshotrs78165611
SNPdbers78165611
MSV3drs78165611
GWAS Ctlgrs78165611
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs78165611(A;A)
Alt rs78165611(A;A)
Reference rs78165611(G;G)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42451817C>T
CLNSRC
CLNACC


[PMID 15099289] Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia.