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: rs1042034
rs1042034
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.010 1.000 1 2017 2017
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs10748835
rs10748835
5 0.827 0.160 10 102900499 non coding transcript exon variant G/A snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs11066280
rs11066280
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.010 1.000 1 2014 2014
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2017 2017
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: rs11575937
rs11575937
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11615
rs11615
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
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: 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
dbSNP: rs12229654
rs12229654
20 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 0.010 1.000 1 2014 2014
dbSNP: rs1251035592
rs1251035592
1 1.000 0.040 7 99664039 missense variant T/C snv 4.2E-06 0.010 1.000 1 2013 2013
dbSNP: rs1256046734
rs1256046734
12 0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1256049
rs1256049
32 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs13281615
rs13281615
18 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.010 1.000 1 2017 2017
dbSNP: rs1341991169
rs1341991169
LPL
1 1.000 0.040 8 19939444 missense variant G/A snv 0.010 1.000 1 2002 2002
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: rs1444332461
rs1444332461
1 1.000 0.040 22 50627185 missense variant A/G snv 4.1E-06 0.010 1.000 1 2014 2014
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: rs17249754
rs17249754
12 0.882 0.120 12 89666809 intron variant G/A snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs174537
rs174537
23 0.708 0.400 11 61785208 non coding transcript exon variant G/T snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs174547
rs174547
33 0.742 0.240 11 61803311 intron variant T/C snv 0.28 0.010 1.000 1 2012 2012
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