{{Rsnum
|rsid=805708
|Gene=COL17A1
|Chromosome=10
|position=105824333
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.3994
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}
{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 47.8 | 40.7 | 11.5
| HCB | 51.1 | 44.5 | 4.4
| JPT | 49.6 | 45.1 | 5.3
| YRI | 6.8 | 29.3 | 63.9
| ASW | 8.8 | 50.9 | 40.4
| CHB | 51.1 | 44.5 | 4.4
| CHD | 53.2 | 44.0 | 2.8
| GIH | 37.6 | 43.6 | 18.8
| LWK | 6.4 | 41.8 | 51.8
| MEX | 56.9 | 36.2 | 6.9
| MKK | 21.2 | 52.6 | 26.3
| TSI | 50.0 | 44.1 | 5.9
| HapMapRevision=28
}}{{Venter SNP
|rsid=805708
|allele=A
|frequency=0.275
|uid=1103694043133
|type=heterozygous_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=Thr210Met
|aa_change_short=T210M
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs805708
|overall_frequency_n=6244
|overall_frequency_d=10758
|overall_frequency=0.580405
|n_genomes=43
|n_genomes_annotated=0
|n_haplomes=63
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=2
|webscore=N
}}

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