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: rs80358191
rs80358191
COL8A2
3 0.882 0.080 1 36098318 missense variant G/T snv 0.810 1.000 2 2001 2013
dbSNP: rs369487110
rs369487110
COL8A2
1 1.000 0.080 1 36098770 missense variant C/G;T snv 4.1E-06; 1.1E-04 4.9E-05 0.700 1.000 1 2001 2001
dbSNP: rs145553904
rs145553904
COL8A2
1 1.000 0.080 1 36097957 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0
dbSNP: rs199786966
rs199786966
COL8A2
1 1.000 0.080 1 36098612 missense variant C/G snv 4.0E-04 3.3E-04 0.700 0
dbSNP: rs201235688
rs201235688
COL8A2
2 0.925 0.080 1 36098380 missense variant C/A;T snv 1.2E-03 0.700 0
dbSNP: rs727504229
rs727504229
COL8A2
2 0.925 0.080 1 36098317 missense variant TG/AC mnv 0.700 0
dbSNP: rs80358192
rs80358192
COL8A2
6 0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05 0.700 0