{{Rsnum
|rsid=11650915
|Gene=KRT12
|Chromosome=17
|position=39023396
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.3388
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}
{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 14.3 | 46.4 | 39.3
| HCB | 29.6 | 49.6 | 20.7
| JPT | 34.8 | 50.0 | 15.2
| YRI | 0.0 | 12.6 | 87.4
| ASW | 0.0 | 29.8 | 70.2
| CHB | 29.6 | 49.6 | 20.7
| CHD | 30.6 | 55.6 | 13.9
| GIH | 11.2 | 44.9 | 43.9
| LWK | 0.9 | 14.0 | 85.0
| MEX | 19.0 | 53.4 | 27.6
| MKK | 3.8 | 22.4 | 73.7
| TSI | 6.9 | 46.5 | 46.5
| HapMapRevision=28
}}

{{Venter SNP
|rsid=11650915
|allele=A
|frequency=0.422
|uid=1103645323365
|type=heterozygous_SNP
|hugo=KRT12
|ensembl gene=ENSG00000187242
|ensembl transcript=ENST00000251643
|sift=TOLERATED
|disease=Defects in KRT12 are a cause of juvenile epithelial corneal dystrophy of Meesmann (MCD) (MIM:122100). MCD is an autosomal dominant disease that causes fragility of the anterior corneal epithelium. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts.
}}

{{ neighbor
| rsid = 28936695
| distance = 343
}}

{{GET Evidence
|gene=KRT12
|aa_change=Pro15Ser
|aa_change_short=P15S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs11650915
|overall_frequency_n=2878
|overall_frequency_d=10758
|overall_frequency=0.267522
|n_genomes=27
|n_genomes_annotated=0
|n_haplomes=32
|n_articles=0
|n_articles_annotated=0
|nblosum100=3
|autoscore=0
|webscore=N
}}

{{ClinVar
|ALT=A
|CAF=0.6612; 0.3388
|CHROM=17
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.39023396G>A
|CLNSIG=1
|COMMON=1
|FwdALT=A
|FwdREF=G
|GENEINFO=KRT12:3859
|GENE_ID=3859
|GENE_NAME=KRT12
|REF=G
|RSPOS=39023396
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|VC=SNV
|VP=0x05016000000017051f100100
|WGT=0
|dbSNPBuildID=120
|rsid=11650915
|CLNACC=RCV000056428.1
|CLNDBN=not provided
|CLNSRC=Epithelial Biology
|CLNSRCID=KRT12:c.43C>T
|Disease=not provided
}}

{{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}}