{{Rsnum
|rsid=57424749
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Chromosome=17
|Orientation=minus
|Gene=KRT16
|position=41612309
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=KRT16
}}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/148067?db=omim&dopt=Detailed#148067Variants0005 OMIM 148067.0005]

{{omim
|id=148067
|rsnum=57424749
|variant=0005
}}

{{ClinVar
|rsid=57424749
|Reversed=1
|FwdREF=G
|FwdALT=C
|REF=C
|ALT=G
|RSPOS=39768561
|CHROM=17
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050160000000000002110100
|GENEINFO=KRT16:3868
|GENE_NAME=KRT16
|GENE_ID=3868
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.39768561C>G
|CLNSRC=Epithelial Biology; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=KRT16:c.380G>C; 148067.0005
|CLNSIG=5
|CLNCUI=C1706595
|CLNDBN=Pachyonychia congenita, type 1; not provided
|Disease=Pachyonychia congenita; not provided
|CLNACC=RCV000015708.20; RCV000057039.1
|Tags=RV;PM;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1280:C1706595:167200:2309
}}

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