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rs121913613

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913613(A;A)
Make rs121913613(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position43349267
GeneMPL
is asnp
is mentioned by
dbSNPrs121913613
ebirs121913613
HLIrs121913613
Exacrs121913613
Varsomers121913613
Maprs121913613
PheGenIrs121913613
hapmaprs121913613
1000 genomesrs121913613
hgdprs121913613
ensemblrs121913613
gopubmedrs121913613
geneviewrs121913613
scholarrs121913613
googlers121913613
pharmgkbrs121913613
gwascentralrs121913613
openSNPrs121913613
23andMers121913613
23andMe allrs121913613
SNP Nexus

SNPshotrs121913613
SNPdbers121913613
MSV3drs121913613
GWAS Ctlgrs121913613
Max Magnitude0
OMIM159530
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121913613(A;A)
Alt rs121913613(A;A)
Reference rs121913613(G;G)
Significance Pathogenic
Disease Congenital amegakaryocytic thrombocytopenia
Variation info
Gene MPL
CLNDBN Congenital amegakaryocytic thrombocytopenia
Reversed 0
HGVS NC_000001.10:g.43814938G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015222.26,