{{Rsnum
|rsid=7604639
|Gene=MERTK
|Chromosome=2
|position=111994351
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.4821
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MERTK
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 40.7 | 48.7 | 10.6
| HCB | 3.6 | 34.3 | 62.0
| JPT | 4.4 | 30.1 | 65.5
| YRI | 44.9 | 40.8 | 14.3
| ASW | 49.1 | 40.4 | 10.5
| CHB | 3.6 | 34.3 | 62.0
| CHD | 5.5 | 33.9 | 60.6
| GIH | 55.4 | 32.7 | 11.9
| LWK | 44.5 | 45.5 | 10.0
| MEX | 43.1 | 48.3 | 8.6
| MKK | 48.1 | 43.6 | 8.3
| TSI | 33.3 | 49.0 | 17.6
| HapMapRevision=28
}}{{Venter SNP
|rsid=7604639
|allele=A
|frequency=0.317
|uid=1103658185370
|type=heterozygous_SNP
|hugo=MERTK
|ensembl gene=ENSG00000153208
|ensembl transcript=ENST00000295408
|sift=TOLERATED
|disease=Defects in MERTK are a cause of retinitis pigmentosa (RP) (MIM:268000). Retinitis pigmentosa is a group of human diseases that leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
}}

{{GET Evidence
|gene=MERTK
|aa_change=Arg466Lys
|aa_change_short=R466K
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs7604639
|overall_frequency_n=6836
|overall_frequency_d=10758
|overall_frequency=0.635434
|n_genomes=43
|n_genomes_annotated=0
|n_haplomes=65
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-3
|autoscore=2
|n_web_uneval=3
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}