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: rs11542041
rs11542041
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 1.000 1 1988 1988
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.010 1.000 1 1988 1988
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 1995 1995
dbSNP: rs573658040
rs573658040
9 0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06 0.010 1.000 1 1995 1995
dbSNP: rs769455
rs769455
8 0.827 0.120 19 44908783 missense variant C/T snv 1.4E-03 6.9E-03 0.010 1.000 1 1995 1995
dbSNP: rs267606661
rs267606661
10 0.763 0.120 19 44909101 missense variant C/G;T snv 3.9E-04; 1.0E-05 0.010 1.000 1 1997 1997
dbSNP: rs140808909
rs140808909
5 0.851 0.120 19 44909080 missense variant G/A snv 2.0E-04 5.6E-05 0.010 1.000 1 1999 1999
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 1999 1999
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 1999 1999
dbSNP: rs3829462
rs3829462
1 1.000 0.040 15 58560880 missense variant C/A;T snv 0.97 0.010 1.000 1 1999 1999
dbSNP: rs6078
rs6078
3 0.882 0.120 15 58541794 missense variant G/A;T snv 7.1E-02; 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs879254840
rs879254840
5 0.827 0.120 19 11113322 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs1800206
rs1800206
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.020 1.000 2 2001 2013
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.020 0.500 2 2001 2003
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 < 0.001 1 2001 2001
dbSNP: rs773641005
rs773641005
14 0.742 0.240 16 58723829 missense variant T/C snv 0.010 < 0.001 1 2001 2001
dbSNP: rs121918392
rs121918392
2 0.925 0.040 19 44907777 missense variant G/A snv 3.6E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1341991169
rs1341991169
LPL
1 1.000 0.040 8 19939444 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs2230806
rs2230806
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2003 2003
dbSNP: rs4757268
rs4757268
6 0.827 0.120 11 14789216 synonymous variant A/G snv 0.63 0.64 0.010 1.000 1 2003 2003
dbSNP: rs2228314
rs2228314
8 0.790 0.360 22 41880738 missense variant G/C snv 0.34 0.38 0.010 1.000 1 2005 2005
dbSNP: rs150599989
rs150599989
5 0.827 0.320 19 47341767 missense variant G/A;C;T snv 4.0E-06; 9.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs920435389
rs920435389
3 1.000 0.040 5 177091064 missense variant G/C snv 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 0.010 1.000 1 2008 2008
dbSNP: rs121964971
rs121964971
CBS
5 0.851 0.160 21 43058215 missense variant G/A snv 1.2E-05 0.010 < 0.001 1 2009 2009