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: rs143517122
rs143517122
2 1.000 0.040 13 27924267 missense variant G/A;T snv 2.1E-04; 4.2E-06 0.010 1.000 1 2000 2000
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.010 1.000 1 2000 2000
dbSNP: rs587778393
rs587778393
2 1.000 0.040 12 120978923 missense variant GC/CT mnv 0.010 1.000 1 2000 2000
dbSNP: rs754855896
rs754855896
3 0.925 0.120 6 32758877 missense variant G/A;T snv 4.0E-06; 8.1E-06 0.010 1.000 1 2000 2000
dbSNP: rs754907741
rs754907741
2 1.000 0.040 20 44414567 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs763010207
rs763010207
3 0.925 0.080 20 44414531 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs779271027
rs779271027
2 1.000 0.040 20 44413723 missense variant A/C;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs9273643
rs9273643
3 0.925 0.120 6 32661407 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.070 0.571 7 2001 2012
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.070 0.714 7 2001 2016
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.030 1.000 3 2001 2015
dbSNP: rs2281939
rs2281939
9 0.790 0.320 10 95414595 missense variant T/C snv 8.2E-02 0.13 0.030 0.667 3 2001 2018
dbSNP: rs1800561
rs1800561
7 0.807 0.240 4 15824935 missense variant C/A;T snv 8.0E-06; 4.4E-04 0.020 0.500 2 2001 2015
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 < 0.001 1 2001 2001
dbSNP: rs199976415
rs199976415
2 1.000 0.040 1 26911982 missense variant G/A snv 6.0E-05 2.1E-05 0.010 1.000 1 2001 2001
dbSNP: rs2270565
rs2270565
4 0.882 0.080 4 140562317 missense variant T/A snv 8.9E-02 6.5E-02 0.010 1.000 1 2001 2001
dbSNP: rs757431022
rs757431022
3 0.925 0.120 10 95432529 missense variant G/A snv 1.4E-04 4.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs17107315
rs17107315
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.040 1.000 4 2002 2008
dbSNP: rs777418530
rs777418530
10 0.763 0.120 16 84845883 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2002 2002
dbSNP: rs1037733674
rs1037733674
5 0.882 0.120 2 162147429 missense variant T/C snv 1.4E-05 0.010 1.000 1 2002 2002
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