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: rs1064793881
rs1064793881
3 0.925 0.120 17 7673784 missense variant C/T snv 0.700 0
dbSNP: rs121909250
rs121909250
1 1.000 0.040 13 110719736 missense variant G/C snv 0.700 0
dbSNP: rs121909251
rs121909251
1 1.000 0.040 13 110719739 missense variant A/G snv 0.700 0
dbSNP: rs121909252
rs121909252
1 1.000 0.040 13 110719667 missense variant C/A snv 0.700 0
dbSNP: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs1567549584
rs1567549584
2 0.925 0.120 17 7674245 missense variant T/C snv 0.700 0
dbSNP: rs201613442
rs201613442
1 1.000 0.040 1 74540276 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs397514495
rs397514495
4 0.882 0.120 17 7675070 missense variant C/A;T snv 1.2E-05 0.700 0
dbSNP: rs587782144
rs587782144
8 0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs121909237
rs121909237
2 1.000 0.040 10 87933121 missense variant C/G snv 0.800 1.000 1 2002 2002
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2003 2003
dbSNP: rs11549465
rs11549465
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2003 2003
dbSNP: rs11549467
rs11549467
30 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 0.010 1.000 1 2003 2003
dbSNP: rs2234922
rs2234922
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.010 1.000 1 2003 2003
dbSNP: rs876659477
rs876659477
3 0.882 0.040 17 7673730 missense variant T/C snv 0.010 1.000 1 2003 2003
dbSNP: rs1042028
rs1042028
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.010 1.000 1 2006 2006
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2006 2006
dbSNP: rs9282861
rs9282861
31 0.658 0.440 16 28606193 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 1.000 2 2005 2007
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2005 2007
dbSNP: rs1057519975
rs1057519975
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 < 0.001 1 2007 2007
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 < 0.001 1 2007 2007
dbSNP: rs1131691036
rs1131691036
8 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 0.010 < 0.001 1 2007 2007
dbSNP: rs1211098985
rs1211098985
3 1.000 0.040 5 7878128 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2007 2007