{{Rsnum
|rsid=12731981
|Gene=MPL
|Chromosome=1
|position=43338669
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.0225
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MPL
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 9.7 | 90.3
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 1.8 | 98.2
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 4.0 | 96.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 1.8 | 98.2
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 9.8 | 90.2
| HapMapRevision=28
}}

{{Venter SNP
|rsid=12731981
|allele=A
|frequency=0.043
|uid=1103675079787
|type=homozygous_SNP
|hugo=MPL
|ensembl gene=ENSG00000117400
|ensembl transcript=ENST00000372470
|sift=TOLERATED
|disease=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.
}}

{{ neighbor
| rsid = 28928907
| distance = 35
}}

{{GET Evidence
|gene=MPL
|aa_change=Val114Met
|aa_change_short=V114M
|impact=benign
|qualified_impact=Insufficiently evaluated benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12731981
|overall_frequency_n=240
|overall_frequency_d=10758
|overall_frequency=0.022309
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=2
|n_articles_annotated=2
|gene_in_genetests=Y
|pph2_score=0.796
|genetests_testable=Y
|nblosum100=0
|autoscore=3
|n_web_uneval=2
|summary_short=A study in 2001 reported an association with Congenital Amegakaryocytic Thrombocytopenia, but a report in 2009 reclassified it as a benign polymorphism.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}