{{Rsnum
|rsid=57052654
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Chromosome=12
|Orientation=minus
|Gene=KRT6A
|position=52488346
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=KRT6A
}}This SNP has been found in patients with [[pachyonychia congenita Type I]], and the risk allele appears to be a causative mutation for this (dominant) disorder.

See also: [http://www.ncbi.nlm.nih.gov/omim/148041?db=omim&dopt=Detailed#148041Variants0004 OMIM 148041.0004]

{{omim
|id=148041
|rsnum=57052654
|variant=0004
}}

{{ClinVar
|rsid=57052654
|Reversed=1
|FwdREF=T
|FwdALT=C,G
|REF=A
|ALT=C,G
|RSPOS=52882130
|CHROM=12
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050360000000000002110100
|GENEINFO=KRT6A:3853
|GENE_NAME=KRT6A
|GENE_ID=3853
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000012.11:g.52882130A>C; NC_000012.11:g.52882130A>G
|CLNSRC=Epithelial Biology; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=KRT6A:c.1406T>G; 148041.0004; KRT6A:c.1406T>C
|CLNSIG=5
|CLNCUI=C1706595
|CLNDBN=Pachyonychia congenita, type 1; not provided
|Disease=Pachyonychia congenita; not provided
|CLNACC=RCV000015743.20; RCV000056997.1; RCV000056996.1
|Tags=RV;PM;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1280:C1706595:167200:2309
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}