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: rs234706
rs234706
CBS
2 0.925 0.160 21 43065240 synonymous variant G/A snv 0.27 0.010 1.000 1 2000 2000
dbSNP: rs535864736
rs535864736
1 1.000 0.040 2 21038111 missense variant C/A;T snv 2.8E-05 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1282382243
rs1282382243
8 0.807 0.120 13 50843630 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs2303790
rs2303790
19 0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 0.010 1.000 1 2002 2002
dbSNP: rs375837168
rs375837168
1 1.000 0.040 1 179126619 missense variant G/A;C;T snv 1.2E-05; 8.0E-06; 2.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs965384857
rs965384857
LPL
5 0.827 0.160 8 19954234 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1035071612
rs1035071612
9 0.763 0.240 19 11113361 missense variant C/A;T snv 4.0E-06 0.020 1.000 2 2001 2003
dbSNP: rs113129609
rs113129609
2 0.925 0.080 2 112778091 missense variant A/G snv 0.010 < 0.001 1 2003 2003
dbSNP: rs1210207151
rs1210207151
1 1.000 0.040 20 2988426 synonymous variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2003 2003
dbSNP: rs1337448484
rs1337448484
1 1.000 0.040 19 11102673 missense variant C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2003 2003
dbSNP: rs2066714
rs2066714
13 0.742 0.240 9 104824472 missense variant T/C snv 0.21 0.25 0.010 1.000 1 2003 2003
dbSNP: rs2066715
rs2066715
7 0.807 0.160 9 104825752 missense variant C/T snv 8.2E-02 5.5E-02 0.010 1.000 1 2003 2003
dbSNP: rs3733890
rs3733890
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1.000 1 2003 2003
dbSNP: rs544456198
rs544456198
9 0.790 0.120 19 11116930 missense variant G/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2003 2003
dbSNP: rs747760223
rs747760223
3 0.882 0.120 3 39412034 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs750126678
rs750126678
1 1.000 0.040 19 11105229 missense variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs752596535
rs752596535
14 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs781714830
rs781714830
1 1.000 0.040 3 39408672 missense variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs12026
rs12026
6 0.827 0.240 7 95411704 missense variant G/C snv 0.27 0.27 0.010 1.000 1 2004 2004
dbSNP: rs121918530
rs121918530
1 1.000 0.040 15 99690352 missense variant A/G snv 7.8E-04 8.9E-04 0.010 1.000 1 2004 2004
dbSNP: rs121918531
rs121918531
2 0.925 0.080 15 99690412 missense variant G/A snv 8.3E-06 2.1E-05 0.010 1.000 1 2004 2004
dbSNP: rs1381748667
rs1381748667
1 1.000 0.040 11 120307576 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs16881446
rs16881446
2 0.925 0.040 4 11406961 intron variant T/C snv 0.27 0.700 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: rs776478288
rs776478288
2 0.925 0.080 6 46716518 missense variant A/G snv 0.010 1.000 1 2004 2004