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rs121913614

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913614(A;A)
Make rs121913614(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position43349308
GeneMPL
is asnp
is mentioned by
dbSNPrs121913614
dbSNP (classic)rs121913614
ClinGenrs121913614
ebirs121913614
HLIrs121913614
Exacrs121913614
Gnomadrs121913614
Varsomers121913614
LitVarrs121913614
Maprs121913614
PheGenIrs121913614
Biobankrs121913614
1000 genomesrs121913614
hgdprs121913614
ensemblrs121913614
geneviewrs121913614
scholarrs121913614
googlers121913614
pharmgkbrs121913614
gwascentralrs121913614
openSNPrs121913614
23andMers121913614
SNPshotrs121913614
SNPdbers121913614
MSV3drs121913614
GWAS Ctlgrs121913614
Max Magnitude0
OMIM159530
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121913614(A;A)
Alt rs121913614(A;A)
Reference Rs121913614(G;G)
Significance Pathogenic
Disease Thrombocytosis Myeloproliferative Neoplasm Myelofibrosis Essential thrombocythemia
Variation info
Gene MPL
CLNDBN Thrombocytosis, benign familial microcytic Myeloproliferative Neoplasm Myelofibrosis Essential thrombocythemia
Reversed 0
HGVS NC_000001.10:g.43814979G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015226.26, RCV000418818.1, RCV000425381.1, RCV000436519.1,