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rs121913612

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913612(C;T)
Make rs121913612(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position43352768
GeneMPL
is asnp
is mentioned by
dbSNPrs121913612
ebirs121913612
HLIrs121913612
Exacrs121913612
Varsomers121913612
Maprs121913612
PheGenIrs121913612
hapmaprs121913612
1000 genomesrs121913612
hgdprs121913612
ensemblrs121913612
gopubmedrs121913612
geneviewrs121913612
scholarrs121913612
googlers121913612
pharmgkbrs121913612
gwascentralrs121913612
openSNPrs121913612
23andMers121913612
23andMe allrs121913612
SNP Nexus

SNPshotrs121913612
SNPdbers121913612
MSV3drs121913612
GWAS Ctlgrs121913612
Max Magnitude0
OMIM159530
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121913612(T;T)
Alt rs121913612(T;T)
Reference rs121913612(C;C)
Significance Pathogenic
Disease Congenital amegakaryocytic thrombocytopenia
Variation info
Gene MPL
CLNDBN Congenital amegakaryocytic thrombocytopenia
Reversed 0
HGVS NC_000001.10:g.43818439C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015220.26,