COL7A1, collagen type VII alpha 1 chain, 1294

N. diseases: 38; N. variants: 68
Disease: Dysmorphic features ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912832
rs121912832 		0.882 0.080 3 48575512 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 1986 2015