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: rs5182
rs5182
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.010 < 0.001 1 1994 1994
dbSNP: rs1194897557
rs1194897557
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 < 0.001 1 1996 1996
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 < 0.001 1 1996 1996
dbSNP: rs118204057
rs118204057
LPL
16 0.732 0.400 8 19954222 missense variant G/A;C snv 1.9E-04 0.010 1.000 1 1999 1999
dbSNP: rs5742904
rs5742904
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.020 1.000 2 2001 2001
dbSNP: rs1314386070
rs1314386070
9 0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs368939818
rs368939818
13 0.763 0.280 11 49156734 missense variant G/A snv 4.0E-05 2.1E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs755001634
rs755001634
13 0.763 0.280 11 49154384 stop gained G/A snv 1.2E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs78478128
rs78478128
7 0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04 0.010 1.000 1 2002 2002
dbSNP: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 < 0.001 1 2003 2003
dbSNP: rs201058276
rs201058276
F7
11 0.776 0.240 13 113118731 missense variant G/A;C snv 4.8E-05; 4.0E-06 0.020 1.000 2 2001 2004
dbSNP: rs1129844
rs1129844
13 0.752 0.320 17 34285875 missense variant G/A;C;T snv 0.16; 1.2E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs144588452
rs144588452
1 9 104784371 missense variant C/T snv 2.2E-04 1.5E-04 0.010 1.000 1 2004 2004
dbSNP: rs375752214
rs375752214
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs397509365
rs397509365
5 0.925 0.080 19 11116197 missense variant A/C;G snv 8.0E-06 0.020 0.500 2 2002 2005
dbSNP: rs11739136
rs11739136
10 0.827 0.200 5 170383792 missense variant C/T snv 9.9E-02 8.7E-02 0.010 1.000 1 2005 2005
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs1693482
rs1693482
12 0.807 0.240 4 99342808 missense variant C/T snv 0.34 0.31 0.010 < 0.001 1 2005 2005
dbSNP: rs2266780
rs2266780
9 0.827 0.280 1 171114102 missense variant A/G snv 0.15 0.14 0.010 1.000 1 2005 2005
dbSNP: rs35457250
rs35457250
5 0.925 0.080 3 186620775 missense variant C/T snv 9.0E-03 8.1E-03 0.010 1.000 1 2005 2005
dbSNP: rs4917
rs4917
9 0.790 0.160 3 186619924 missense variant T/C snv 0.68 0.68 0.010 1.000 1 2005 2005
dbSNP: rs4918
rs4918
12 0.763 0.400 3 186620593 missense variant G/A;C snv 0.67 0.010 1.000 1 2005 2005
dbSNP: rs693482
rs693482
1 1 64897943 intron variant A/C snv 0.010 < 0.001 1 2005 2005
dbSNP: rs698
rs698
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 < 0.001 1 2005 2005
dbSNP: rs70961709
rs70961709
3 1.000 0.040 3 186620652 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2005 2005