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rs28928907

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs28928907(C;C)
Make rs28928907(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position43338634
GeneMPL
is asnp
is mentioned by
dbSNPrs28928907
ebirs28928907
HLIrs28928907
Exacrs28928907
Varsomers28928907
Maprs28928907
PheGenIrs28928907
hapmaprs28928907
1000 genomesrs28928907
hgdprs28928907
ensemblrs28928907
gopubmedrs28928907
geneviewrs28928907
scholarrs28928907
googlers28928907
pharmgkbrs28928907
gwascentralrs28928907
openSNPrs28928907
23andMers28928907
23andMe allrs28928907
SNP Nexus

SNPshotrs28928907
SNPdbers28928907
MSV3drs28928907
GWAS Ctlgrs28928907
GMAF0.0004591
Max Magnitude0
OMIM159530
DescAMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
Variant0005
Relatedalso
Neighborrs17292650
Distance498
Neighborrs12731981
Distance35


ClinVar
Risk rs28928907(C;C)
Alt rs28928907(C;C)
Reference rs28928907(G;G)
Significance Pathogenic
Disease Congenital amegakaryocytic thrombocytopenia not specified
Variation info
Gene MPL
CLNDBN Congenital amegakaryocytic thrombocytopenia not specified
Reversed 0
HGVS NC_000001.10:g.43804305G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015221.26, RCV000121539.1,