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: rs113994104
rs113994104
COL4A1
1 1.000 0.160 13 110192257 missense variant C/A;T snv 0.800 1.000 1 2014 2014
dbSNP: rs113994105
rs113994105
COL4A1
1 1.000 0.160 13 110187311 missense variant C/T snv 0.800 1.000 1 2014 2014
dbSNP: rs113994106
rs113994106
COL4A1
1 1.000 0.160 13 110187283 missense variant C/T snv 0.800 1.000 1 2014 2014
dbSNP: rs267606743
rs267606743
COL4A1
5 1.000 0.160 13 110192222 missense variant C/T snv 0.800 1.000 1 2014 2014
dbSNP: rs267606744
rs267606744
COL4A1
1 1.000 0.160 13 110192258 missense variant C/G snv 0.800 1.000 1 2014 2014
dbSNP: rs1057523354
rs1057523354
COL4A1
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs113994103
rs113994103
COL4A1 ; COL4A2
1 1.000 0.160 13 110307027 start lost T/A snv 0.700 0
dbSNP: rs113994107
rs113994107
COL4A1
1 1.000 0.160 13 110186513 missense variant C/T snv 0.700 0
dbSNP: rs113994108
rs113994108
COL4A1
2 0.925 0.200 13 110181326 missense variant C/T snv 0.700 0
dbSNP: rs113994109
rs113994109
COL4A1
5 0.827 0.200 13 110179370 missense variant C/T snv 0.700 0
dbSNP: rs113994111
rs113994111
COL4A1
2 0.925 0.200 13 110174463 missense variant C/T snv 0.700 0
dbSNP: rs113994112
rs113994112
COL4A1
2 0.925 0.200 13 110170583 missense variant C/T snv 0.700 0
dbSNP: rs113994113
rs113994113
COL4A1
2 0.925 0.200 13 110162425 missense variant C/G snv 0.700 0
dbSNP: rs113994114
rs113994114
COL4A1
2 0.925 0.200 13 110155300 missense variant C/G snv 0.700 0
dbSNP: rs1461754052
rs1461754052
COL4A1
1 1.000 0.160 13 110192857 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs281865426
rs281865426
COL4A1
1 1.000 0.160 13 110187292 missense variant CC/AA mnv 0.700 0
dbSNP: rs672601346
rs672601346
COL4A1
2 0.925 0.200 13 110179352 missense variant C/T snv 0.700 0
dbSNP: rs747585517
rs747585517
COL4A1
1 1.000 0.160 13 110186475 missense variant G/A snv 1.2E-05 2.1E-05 0.700 0