rs1368134215, COL7A1

N. diseases: 2
Disease: Hallopeau-Siemens Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hallopeau-Siemens Disease
CUI: C0079474
Disease: Hallopeau-Siemens Disease
0.010 GeneticVariation BEFREE The compound heterozygosity for the -96C-->T null mutation and for the R1978X mutation leads to the absence of COLVII at skin level and to the severe phenotype of the HS-RDEB patient.Hum Mutat 16:275, 2000. 10980546 2000