{{Rsnum
|rsid=805722
|Gene=COL17A1
|Chromosome=10
|position=105810400
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.2755
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}
{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 62.7 | 30.9 | 6.4
| HCB | 69.9 | 26.5 | 3.7
| JPT | 59.3 | 37.2 | 3.5
| YRI | 23.1 | 36.7 | 40.1
| ASW | 25.0 | 48.2 | 26.8
| CHB | 69.9 | 26.5 | 3.7
| CHD | 68.5 | 31.5 | 0.0
| GIH | 56.0 | 34.0 | 10.0
| LWK | 23.6 | 46.4 | 30.0
| MEX | 65.5 | 32.8 | 1.7
| MKK | 27.9 | 53.9 | 18.2
| TSI | 68.0 | 29.0 | 3.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=805722
|allele=C
|frequency=0.183
|uid=1103694043091
|type=heterozygous_SNP
|hugo=COL17A1
|ensembl gene=ENSG00000065618
|ensembl transcript=ENST00000353479
|sift=TOLERATED
|disease=Defects in COL17A1 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) (MIM:226650). GABEB is a nonlethal form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.
}}

{{GET Evidence
|gene=COL17A1
|aa_change=Met703Val
|aa_change_short=M703V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs805722
|overall_frequency_n=7691
|overall_frequency_d=10758
|overall_frequency=0.71491
|n_genomes=47
|n_genomes_annotated=0
|n_haplomes=77
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}