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: rs104894014
rs104894014
GCK
3 0.925 0.080 7 44145167 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs1223231582
rs1223231582
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs150179526
rs150179526
2 1.000 0.040 2 162144091 missense variant T/C;G snv 2.7E-03 0.010 < 0.001 1 2002 2002
dbSNP: rs1801483
rs1801483
7 0.851 0.160 17 81809839 missense variant G/A snv 7.4E-03 6.3E-03 0.010 1.000 1 2002 2002
dbSNP: rs1805002
rs1805002
4 0.882 0.160 11 6269890 missense variant G/A snv 4.4E-02 5.1E-02 0.010 < 0.001 1 2002 2002
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 < 0.001 1 2002 2002
dbSNP: rs114202595
rs114202595
4 0.882 0.120 7 127614533 missense variant G/A;T snv 1.2E-04; 9.1E-06 0.010 1.000 1 2003 2003
dbSNP: rs17235409
rs17235409
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 1.000 1 2003 2003
dbSNP: rs199646033
rs199646033
3 0.925 0.120 3 186854219 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs62625753
rs62625753
3 0.925 0.120 3 186854237 missense variant G/A snv 3.0E-03 2.9E-03 0.010 1.000 1 2003 2003
dbSNP: rs950561906
rs950561906
SDS
3 0.925 0.120 12 113398775 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs137852783
rs137852783
4 0.882 0.080 13 27920364 missense variant G/A;T snv 2.9E-03 0.040 0.750 4 1999 2004
dbSNP: rs1337503417
rs1337503417
12 0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs137852787
rs137852787
5 0.882 0.080 13 27924519 missense variant G/A snv 1.3E-03 2.0E-04 0.010 1.000 1 2004 2004
dbSNP: rs145192723
rs145192723
PLG
3 0.925 0.120 6 160714828 synonymous variant C/T snv 6.0E-04 2.2E-03 0.010 1.000 1 2004 2004
dbSNP: rs185847354
rs185847354
11 0.763 0.160 3 186854460 missense variant T/C snv 3.1E-04 7.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs201058276
rs201058276
F7
11 0.776 0.240 13 113118731 missense variant G/A;C snv 4.8E-05; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs56381858
rs56381858
2 1.000 0.040 7 80671994 stop gained T/C;G snv 4.0E-06; 2.4E-04 0.010 1.000 1 2004 2004
dbSNP: rs768883824
rs768883824
2 1.000 0.040 7 80666481 missense variant A/G snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs121909244
rs121909244
11 0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1801262
rs1801262
4 0.882 0.120 2 181678728 missense variant T/C snv 0.70 0.68 0.010 1.000 1 2005 2005
dbSNP: rs193929373
rs193929373
4 0.882 0.120 7 44147723 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs2228146
rs2228146
3 0.925 0.120 1 154454574 missense variant G/A snv 1.3E-02; 4.0E-06 5.4E-02 0.010 1.000 1 2005 2005
dbSNP: rs2275558
rs2275558
5 0.882 0.200 1 164559883 missense variant G/A snv 0.30 0.19 0.010 1.000 1 2005 2005
dbSNP: rs3732581
rs3732581
9 0.790 0.120 3 183840614 missense variant C/G;T snv 0.46; 1.2E-05 0.010 1.000 1 2005 2005