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rs121913610

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913610(C;T)
Make rs121913610(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position43339435
GeneMPL
is asnp
is mentioned by
dbSNPrs121913610
ebirs121913610
HLIrs121913610
Exacrs121913610
Varsomers121913610
Maprs121913610
PheGenIrs121913610
hapmaprs121913610
1000 genomesrs121913610
hgdprs121913610
ensemblrs121913610
gopubmedrs121913610
geneviewrs121913610
scholarrs121913610
googlers121913610
pharmgkbrs121913610
gwascentralrs121913610
openSNPrs121913610
23andMers121913610
23andMe allrs121913610
SNP Nexus

SNPshotrs121913610
SNPdbers121913610
MSV3drs121913610
GWAS Ctlgrs121913610
Max Magnitude0
OMIM159530
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121913610(A,G,T;A,G,T)
Alt rs121913610(A,G,T;A,G,T)
Reference rs121913610(C;C)
Significance Pathogenic
Disease Congenital amegakaryocytic thrombocytopenia
Variation info
Gene MPL
CLNDBN Congenital amegakaryocytic thrombocytopenia
Reversed 0
HGVS NC_000001.10:g.43805106C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015217.22,