Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs148434485

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs148434485(C;T)
Make rs148434485(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position43338146
GeneMPL
is asnp
is mentioned by
dbSNPrs148434485
dbSNP (old)rs148434485
ClinGenrs148434485
ebirs148434485
HLIrs148434485
Exacrs148434485
Gnomadrs148434485
Varsomers148434485
Maprs148434485
PheGenIrs148434485
Biobankrs148434485
1000 genomesrs148434485
hgdprs148434485
ensemblrs148434485
gopubmedrs148434485
geneviewrs148434485
scholarrs148434485
googlers148434485
pharmgkbrs148434485
gwascentralrs148434485
openSNPrs148434485
23andMers148434485
23andMe allrs148434485
SNPshotrs148434485
SNPdbers148434485
MSV3drs148434485
GWAS Ctlgrs148434485
Max Magnitude0
ClinVar
Risk rs148434485(T;T)
Alt rs148434485(T;T)
Reference Rs148434485(C;C)
Significance Pathogenic
Disease Congenital amegakaryocytic thrombocytopenia
Variation info
Gene MPL
CLNDBN Congenital amegakaryocytic thrombocytopenia
Reversed 0
HGVS NC_000001.10:g.43803817C>T
CLNSRC
CLNACC RCV000411190.1,