{{Rsnum
|rsid=805698
|Gene=COL17A1
|Chromosome=10
|position=105816916
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.1589
|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 | 0.0 | 0.0 | 100.0
| HCB | 0.7 | 13.9 | 85.4
| JPT | 2.7 | 25.7 | 71.7
| YRI | 40.1 | 38.8 | 21.1
| ASW | 19.3 | 45.6 | 35.1
| CHB | 0.7 | 13.9 | 85.4
| CHD | 0.0 | 14.7 | 85.3
| GIH | 0.0 | 8.9 | 91.1
| LWK | 24.8 | 51.4 | 23.9
| MEX | 0.0 | 8.6 | 91.4
| MKK | 8.3 | 53.2 | 38.5
| TSI | 0.0 | 1.0 | 99.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=805698
|allele=T
|frequency=1
|uid=1103694043121
|type=homozygous_SNP
|hugo=COL17A1
|ensembl gene=ENSG00000065618
|ensembl transcript=ENST00000353479
|sift=
|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=Gly428Ser
|aa_change_short=G428S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs805698
|overall_frequency_n=9090
|overall_frequency_d=10754
|overall_frequency=0.845267
|n_genomes=44
|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=2
|autoscore=3
|n_web_uneval=2
}}

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