{{Rsnum
|rsid=11170164
|Gene=KRT5
|Chromosome=12
|position=52519884
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.02893
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=KRT5
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 15.0 | 85.0
| 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 | 8.9 | 91.1
| LWK | 0.0 | 0.9 | 99.1
| MEX | 0.0 | 5.2 | 94.8
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 12.9 | 87.1
| HapMapRevision=28
}}
[http://blog.23andme.com/2009/07/06/snpwatch-genetic-variants-near-tumor-suppressor-genes-may-increase-risk-for-brain-and-skin-cancer/ 23andMe blog] [[rs11170164]]	T	1.35	[[Basal Cell Carcinoma]]

{{Venter SNP
|rsid=11170164
|allele=T
|frequency=0.083
|uid=1103649442600
|type=heterozygous_SNP
|hugo=KRT5
|ensembl gene=ENSG00000186081
|ensembl transcript=ENST00000252242
|sift=AFFECT FUNCTION
|disease=Defects in KRT5 are the cause of epidermolysis bullosa simplex with mottled pigmentation (MP-EBS) (MIM:131960). MP-EBS is characterized by additional reticular hyperpigmentation.
}}

{{ neighbor
| rsid = 641615
| distance = 759
}}

{{PMID Auto
|PMID=19578363
|Title=New common variants affecting susceptibility to basal cell carcinoma
|OA=1
}}

{{omim
|id=613061
|rsnum=11170164
}}

{{GET Evidence
|gene=KRT5
|aa_change=Gly138Glu
|aa_change_short=G138E
|impact=pathogenic
|qualified_impact=Low clinical importance, Likely pathogenic
|inheritance=undefined
|quality_scores=Array
|dbsnp_id=rs11170164
|overall_frequency_n=561
|overall_frequency_d=10758
|overall_frequency=0.0521472
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=2
|qualitycomment_severity=Y
|qualityscore_treatability=1
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|pph2_score=0.932
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=6
|autoscore=4
|n_web_uneval=8
|variant_evidence=0
|clinical_importance=1
|summary_short=This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).
}}

{{ClinVar
|ALT=T
|CAF=0.9711; 0.02893
|CHROM=12
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.52913668C>T
|CLNSIG=1
|COMMON=1
|FwdALT=A
|FwdREF=G
|GENEINFO=KRT5:3852
|GENE_ID=3852
|GENE_NAME=KRT5
|REF=C
|RSPOS=52913668
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|VC=SNV
|VP=0x050168000000150517110101
|WGT=0
|dbSNPBuildID=120
|rsid=11170164
|CLNACC=RCV000056586.1
|CLNDBN=not provided
|CLNSRC=Epithelial Biology
|CLNSRCID=KRT5:c.413G>A
|Disease=not provided
}}

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