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rs121913615

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913615(G;T)
Make rs121913615(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position43349338
GeneMPL
is asnp
is mentioned by
dbSNPrs121913615
dbSNP (classic)rs121913615
ClinGenrs121913615
ebirs121913615
HLIrs121913615
Exacrs121913615
Gnomadrs121913615
Varsomers121913615
LitVarrs121913615
Maprs121913615
PheGenIrs121913615
Biobankrs121913615
1000 genomesrs121913615
hgdprs121913615
ensemblrs121913615
geneviewrs121913615
scholarrs121913615
googlers121913615
pharmgkbrs121913615
gwascentralrs121913615
openSNPrs121913615
23andMers121913615
SNPshotrs121913615
SNPdbers121913615
MSV3drs121913615
GWAS Ctlgrs121913615
Max Magnitude0
OMIM159530
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121913615(C;C) rs121913615(T;T)
Alt rs121913615(C;C) rs121913615(T;T)
Reference Rs121913615(G;G)
Significance Pathogenic
Disease Myelofibrosis with myeloid metaplasia Thrombocythemia 2 Hematologic neoplasm
Variation info
Gene MPL
CLNDBN Myelofibrosis with myeloid metaplasia Thrombocythemia 2, somatic Hematologic neoplasm
Reversed 0
HGVS NC_000001.10:g.43815009G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015227.4, RCV000022668.4, RCV000422740.1,