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rs780017389

From SNPedia

Orientationplus
Geno Mag Summary
(GTCTAC;GTCTAC) 0 common in clinvar
Make rs780017389(-;-)
Make rs780017389(-;GTCTAC)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position44380901
GeneITGA2B
is asnp
is mentioned by
dbSNPrs780017389
ebirs780017389
HLIrs780017389
Exacrs780017389
Varsomers780017389
Maprs780017389
PheGenIrs780017389
hapmaprs780017389
1000 genomesrs780017389
hgdprs780017389
ensemblrs780017389
gopubmedrs780017389
geneviewrs780017389
scholarrs780017389
googlers780017389
pharmgkbrs780017389
gwascentralrs780017389
openSNPrs780017389
23andMers780017389
23andMe allrs780017389
SNP Nexus

SNPshotrs780017389
SNPdbers780017389
MSV3drs780017389
GWAS Ctlgrs780017389
Max Magnitude0
ClinVar
Risk rs780017389(;)
Alt rs780017389(;)
Reference rs780017389(GTCTAC;GTCTAC)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 0
HGVS NC_000017.10:g.42458269_42458274delGTCTAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003032.2,