Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912854
rs121912854
COL7A1
16 0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs121912855
rs121912855
COL7A1
16 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs121912856
rs121912856
COL7A1
13 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.700 0
dbSNP: rs387906604
rs387906604
COL7A1 ; UCN2
1 1.000 0.080 3 48565458 stop gained G/A snv 0.700 0