Gene: COL7A1 ×
Source: CLINVAR ×
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: rs1057518863
rs1057518863
COL7A1
4 0.925 0.120 3 48567190 missense variant C/A;T snv 0.700 0
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
15 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs780261665
rs780261665
COL7A1
9 0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05 0.700 0