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: rs104894419
rs104894419
8 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 0
dbSNP: rs1057517992
rs1057517992
2 0.925 0.240 12 49031861 stop gained G/A snv 0.700 0
dbSNP: rs121913240
rs121913240
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.700 0
dbSNP: rs121913527
rs121913527
9 0.807 0.320 12 25225628 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs587780174
rs587780174
7 0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05 0.700 0
dbSNP: rs730882018
rs730882018
5 0.851 0.320 17 7676153 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1400966919
rs1400966919
3 0.925 0.240 5 177096737 missense variant G/A snv 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs869320694
rs869320694
16 0.742 0.520 8 38414790 missense variant T/C snv 0.010 1.000 1 2000 2000
dbSNP: rs1450703683
rs1450703683
1 1.000 0.160 X 8533018 missense variant T/C snv 1.9E-05 0.010 1.000 1 2001 2001
dbSNP: rs961773676
rs961773676
1 1.000 0.160 22 40409505 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs764931115
rs764931115
3 0.925 0.200 14 104780148 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs121909631
rs121909631
5 0.827 0.280 8 38419696 missense variant T/C snv 0.010 < 0.001 1 2006 2006
dbSNP: rs121913478
rs121913478
17 0.708 0.640 10 121515280 missense variant T/C snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2006 2006
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs746082633
rs746082633
5 0.827 0.280 8 38418270 missense variant T/C snv 1.6E-05 1.4E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs777103792
rs777103792
1 1.000 0.160 8 38419678 missense variant T/C snv 1.2E-05 2.1E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2007 2007
dbSNP: rs201478192
rs201478192
12 0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 0.010 1.000 1 2007 2007
dbSNP: rs2107356
rs2107356
4 0.851 0.240 16 27312083 upstream gene variant C/T snv 0.35 0.010 1.000 1 2007 2007
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2007 2007
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.030 0.667 3 2003 2008
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 0.500 2 2007 2008
dbSNP: rs1250801605
rs1250801605
1 1.000 0.160 2 201185809 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008