{{Rsnum
|rsid = 35623035
|geno1 = (A;A)
|geno2 = (A;G)
|geno3 = (G;G)
|Gene = COL7A1
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|Chromosome=3
|position=48592819
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=COL7A1
}}{{Venter SNP
|rsid=35623035
|allele=A
|frequency=
|uid=1103656089813
|type=heterozygous_SNP
|hugo=COL7A1
|ensembl gene=ENSG00000114270
|ensembl transcript=ENST00000328333
|sift=
|disease=Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica with subcorneal cleavage (EBDSC) (MIM:607600); also known as epidermolysis bullosa simplex superficialis (EBSS). EBDSC is a new variant of epidermolysis bullosa simplex (EBS), characterized by the development of skin cleavage just beneath the level of stratum corneum. It appears to be transmitted as an autosomal dominant trait and differs from other autosomal dominant forms of EBS by the common findings of milia and atrophic scarring, as well as involvement of oral and/or ocular surfaces. It is further differentiated by the presence of blisters and the absence of spontaneous continual exfoliation or peeling.
}}

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