{{Rsnum
|rsid=17116350
|Gene=COL17A1
|Chromosome=10
|position=105793750
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.2342
|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 | 2.7 | 33.9 | 63.4
| HCB | 1.5 | 24.8 | 73.7
| JPT | 0.9 | 33.3 | 65.8
| YRI | 18.8 | 47.2 | 34.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 1.5 | 24.8 | 73.7
| CHD | 1.9 | 25.0 | 73.1
| GIH | 6.1 | 48.0 | 45.9
| LWK | 13.8 | 40.4 | 45.9
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 8.0 | 37.0 | 55.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=17116350
|allele=C
|frequency=
|uid=1103694043057
|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.
}}

{{PMID Auto
|PMID=16252234
|Title=Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.
|OA=1
}}

{{PMID Auto
|PMID=16385451
|Title=A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
|OA=1
}}

{{GET Evidence
|gene=COL17A1
|aa_change=Asp1370Gly
|aa_change_short=D1370G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs17116350
|overall_frequency_n=3097
|overall_frequency_d=10758
|overall_frequency=0.287879
|n_genomes=28
|n_genomes_annotated=0
|n_haplomes=35
|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=4
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}