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rs12731981

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs12731981(A;A)
Make rs12731981(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position43338669
GeneMPL
is asnp
is mentioned by
dbSNPrs12731981
ebirs12731981
HLIrs12731981
Exacrs12731981
Varsomers12731981
Maprs12731981
PheGenIrs12731981
hapmaprs12731981
1000 genomesrs12731981
hgdprs12731981
ensemblrs12731981
gopubmedrs12731981
geneviewrs12731981
scholarrs12731981
googlers12731981
pharmgkbrs12731981
gwascentralrs12731981
openSNPrs12731981
23andMers12731981
23andMe allrs12731981
SNP Nexus

SNPshotrs12731981
SNPdbers12731981
MSV3drs12731981
GWAS Ctlgrs12731981
GMAF0.0225
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene MPL
allele A
frequency 0.043
sift TOLERATED
HuRef 1103675079787
Disease Association Defects in MPL are a cause of congenital amegakaryocytic thrombocytopenia (CAMT) (MIM:604498). CAMT is a disease characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies.



Neighborrs28928907
Distance35


GET Evidence
MPL-V114M
aa_change Val114Met
aa_change_short V114M
impact benign
qualified_impact Insufficiently evaluated benign
overall_frequency 0.022309
summary A study in 2001 reported an association with Congenital Amegakaryocytic Thrombocytopenia, but a report in 2009 reclassified it as a benign polymorphism.



ClinVar
Risk rs12731981(A;A)
Alt rs12731981(A;A)
Reference rs12731981(G;G)
Significance Untested
Disease not specified
Variation info
Gene MPL
CLNDBN not specified
Reversed 0
HGVS NC_000001.10:g.43804340G>A
CLNSRC ClinVar
CLNACC RCV000121540.1,