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

rs78657866

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs78657866(A;A)
Make rs78657866(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44374470
GeneITGA2B
is asnp
is mentioned by
dbSNPrs78657866
ebirs78657866
HLIrs78657866
Exacrs78657866
Varsomers78657866
Maprs78657866
PheGenIrs78657866
hapmaprs78657866
1000 genomesrs78657866
hgdprs78657866
ensemblrs78657866
gopubmedrs78657866
geneviewrs78657866
scholarrs78657866
googlers78657866
pharmgkbrs78657866
gwascentralrs78657866
openSNPrs78657866
23andMers78657866
23andMe allrs78657866
SNP Nexus

SNPshotrs78657866
SNPdbers78657866
MSV3drs78657866
GWAS Ctlgrs78657866
Max Magnitude0
ClinVar
Risk rs78657866(A;A)
Alt rs78657866(A;A)
Reference rs78657866(G;G)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42451838C>T
CLNSRC
CLNACC


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