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: rs147040026
rs147040026
COL7A1
4 0.882 0.120 3 48591738 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1566902569
rs1566902569
FBN1
9 0.882 0.160 15 48460299 missense variant C/A snv 0.700 0