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rs137852909

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Glanzmann's thrombasthenia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3 Glanzmann's thromboasthenia
(A;G) 2 Carrier of a Glanzmann's thromboasthenia allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome17
Position44381019
GeneITGA2B
is asnp
is mentioned by
dbSNPrs137852909
ebirs137852909
HLIrs137852909
Exacrs137852909
Varsomers137852909
Maprs137852909
PheGenIrs137852909
hapmaprs137852909
1000 genomesrs137852909
hgdprs137852909
ensemblrs137852909
gopubmedrs137852909
geneviewrs137852909
scholarrs137852909
googlers137852909
pharmgkbrs137852909
gwascentralrs137852909
openSNPrs137852909
23andMers137852909
23andMe allrs137852909
SNP Nexus

SNPshotrs137852909
SNPdbers137852909
MSV3drs137852909
GWAS Ctlgrs137852909
Max Magnitude3

Glanzmann's thrombasthenia

OMIM607759
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137852909(A;A)
Alt rs137852909(A;A)
Reference rs137852909(G;G)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42458387C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003031.2,