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rs121913616

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs121913616(AA;AA)
Make rs121913616(AA;TG)
ReferenceGRCh38 38.1/141
Chromosome1
Position43349337
GeneMPL
is asnp
is mentioned by
dbSNPrs121913616
ebirs121913616
HLIrs121913616
Exacrs121913616
Varsomers121913616
Maprs121913616
PheGenIrs121913616
hapmaprs121913616
1000 genomesrs121913616
hgdprs121913616
ensemblrs121913616
gopubmedrs121913616
geneviewrs121913616
scholarrs121913616
googlers121913616
pharmgkbrs121913616
gwascentralrs121913616
openSNPrs121913616
23andMers121913616
23andMe allrs121913616
SNP Nexus

SNPshotrs121913616
SNPdbers121913616
MSV3drs121913616
GWAS Ctlgrs121913616
Max Magnitude0
OMIM159530
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121913616(AA;AA)
Alt rs121913616(AA;AA)
Reference rs121913616(TG;TG)
Significance Pathogenic
Disease Myelofibrosis with myeloid metaplasia
Variation info
Gene MPL
CLNDBN Myelofibrosis with myeloid metaplasia
Reversed 0
HGVS NC_000001.10:g.43815008_43815009delTGinsAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000015228.4,