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rs28928908

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs28928908(A;A)
Make rs28928908(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position43340096
GeneMPL
is asnp
is mentioned by
dbSNPrs28928908
ebirs28928908
HLIrs28928908
Exacrs28928908
Varsomers28928908
Maprs28928908
PheGenIrs28928908
hapmaprs28928908
1000 genomesrs28928908
hgdprs28928908
ensemblrs28928908
gopubmedrs28928908
geneviewrs28928908
scholarrs28928908
googlers28928908
pharmgkbrs28928908
gwascentralrs28928908
openSNPrs28928908
23andMers28928908
23andMe allrs28928908
SNP Nexus

SNPshotrs28928908
SNPdbers28928908
MSV3drs28928908
GWAS Ctlgrs28928908
Max Magnitude0
OMIM159530
DescAMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
Variant0008
Relatedalso


ClinVar
Risk rs28928908(A;A)
Alt rs28928908(A;A)
Reference Rs28928908(C;C)
Significance Pathogenic
Disease Congenital amegakaryocytic thrombocytopenia
Variation info
Gene MPL
CLNDBN Congenital amegakaryocytic thrombocytopenia
Reversed 0
HGVS NC_000001.10:g.43805767C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015224.26,