Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912854
rs121912854
COL7A1
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs121912855
rs121912855
COL7A1
0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0