Have questions? Visit https://www.reddit.com/r/SNPedia

rs121913611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913611(C;T)
Make rs121913611(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position43340042
GeneMPL
is asnp
is mentioned by
dbSNPrs121913611
ebirs121913611
HLIrs121913611
Exacrs121913611
Varsomers121913611
Maprs121913611
PheGenIrs121913611
hapmaprs121913611
1000 genomesrs121913611
hgdprs121913611
ensemblrs121913611
gopubmedrs121913611
geneviewrs121913611
scholarrs121913611
googlers121913611
pharmgkbrs121913611
gwascentralrs121913611
openSNPrs121913611
23andMers121913611
23andMe allrs121913611
SNP Nexus

SNPshotrs121913611
SNPdbers121913611
MSV3drs121913611
GWAS Ctlgrs121913611
Max Magnitude0
OMIM159530
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121913611(T;T)
Alt rs121913611(T;T)
Reference rs121913611(C;C)
Significance Pathogenic
Disease Congenital amegakaryocytic thrombocytopenia
Variation info
Gene MPL
CLNDBN Congenital amegakaryocytic thrombocytopenia
Reversed 0
HGVS NC_000001.10:g.43805713C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015219.22,