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rs28941470

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28941470(C;C)
Make rs28941470(C;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position27161130
GeneMASTL
is asnp
is mentioned by
dbSNPrs28941470
ebirs28941470
HLIrs28941470
Exacrs28941470
Varsomers28941470
Maprs28941470
PheGenIrs28941470
hapmaprs28941470
1000 genomesrs28941470
hgdprs28941470
ensemblrs28941470
gopubmedrs28941470
geneviewrs28941470
scholarrs28941470
googlers28941470
pharmgkbrs28941470
gwascentralrs28941470
openSNPrs28941470
23andMers28941470
23andMe allrs28941470
SNP Nexus

SNPshotrs28941470
SNPdbers28941470
MSV3drs28941470
GWAS Ctlgrs28941470
Max Magnitude0
OMIM608221
DescTHROMBOCYTOPENIA 2
Variant0001
Relatedalso


ClinVar
Risk rs28941470(C;C)
Alt rs28941470(C;C)
Reference rs28941470(G;G)
Significance Pathogenic
Disease Thrombocytopenia 2
Variation info
Gene MASTL
CLNDBN Thrombocytopenia 2
Reversed 0
HGVS NC_000010.10:g.27450059G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002573.5,