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: rs2306283
rs2306283
16 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 0.030 1.000 3 2010 2018
dbSNP: rs11575937
rs11575937
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2013 2013
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: 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: rs1341991169
rs1341991169
LPL
1 1.000 0.040 8 19939444 missense variant G/A snv 0.010 1.000 1 2002 2002
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: 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: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs198388
rs198388
4 0.851 0.160 1 11857283 downstream gene variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs200960801
rs200960801
6 0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs2071410
rs2071410
7 0.882 0.160 15 90877710 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016
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: 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: rs4713518
rs4713518
3 0.925 0.160 6 32289560 intron variant A/G;T snv 0.010 1.000 1 2019 2019
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: 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: rs676210
rs676210
12 0.925 0.120 2 21008652 missense variant G/A;T snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs764929617
rs764929617
8 0.776 0.200 19 44907799 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs773641005
rs773641005
14 0.742 0.240 16 58723829 missense variant T/C snv 0.010 < 0.001 1 2001 2001
dbSNP: rs879254840
rs879254840
5 0.827 0.120 19 11113322 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs886916693
rs886916693
1 1.000 0.040 2 8806360 missense variant T/C snv 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs920435389
rs920435389
3 1.000 0.040 5 177091064 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs974389711
rs974389711
1 1.000 0.040 11 116836210 synonymous variant C/T snv 0.010 1.000 1 2016 2016
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