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: rs11821102
rs11821102
2 11 35230997 3 prime UTR variant G/A snv 6.8E-02 0.020 1.000 2 2016 2016
dbSNP: rs149642280
rs149642280
2 14 103699501 missense variant C/T snv 1.0E-04; 4.0E-06 3.5E-05 0.020 < 0.001 2 2003 2006
dbSNP: rs747797219
rs747797219
2 22 28689135 missense variant C/A;G snv 4.3E-06 0.020 1.000 2 2006 2007
dbSNP: rs786203797
rs786203797
2 17 43095876 missense variant C/A;T snv 0.020 < 0.001 2 2003 2006
dbSNP: rs1012049
rs1012049
2 6 128209162 intron variant G/A snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs1027720509
rs1027720509
2 17 18340813 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1047344644
rs1047344644
2 7 143268092 missense variant C/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1056628
rs1056628
2 20 46016407 3 prime UTR variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1060502495
rs1060502495
2 13 32332560 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1064793328
rs1064793328
2 7 5973425 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1088625
rs1088625
2 6 83646407 intron variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs11060845
rs11060845
2 12 130367629 intron variant G/T snv 4.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs11089328
rs11089328
2 22 20092080 intron variant A/G snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs11160608
rs11160608
2 14 100846756 non coding transcript exon variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs111853599
rs111853599
2 4 103196214 missense variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs11267092
rs11267092
F2R
2 5 76715788 intron variant -/GGCCGCGGGAAGC;GGCCGCGGGAAGCGGCCGCGGGAAGC delins 0.010 1.000 1 2013 2013
dbSNP: rs112690925
rs112690925
2 11 535098 intron variant T/G snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs11544193
rs11544193
2 16 11915447 missense variant C/A snv 0.48 0.43 0.010 < 0.001 1 2005 2005
dbSNP: rs11575899
rs11575899
2 15 51227749 intron variant AGA/-;AGAAGA delins 0.010 1.000 1 2016 2016
dbSNP: rs1171303257
rs1171303257
ALB
2 4 73410405 missense variant G/C snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1171916811
rs1171916811
LPA
2 6 160633826 missense variant C/T snv 1.7E-05 0.010 1.000 1 2006 2006
dbSNP: rs117889746
rs117889746
2 12 9181030 stop gained G/A snv 6.6E-03 2.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs1181611385
rs1181611385
2 10 133394232 synonymous variant C/A;G;T snv 9.2E-06; 9.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs1189209220
rs1189209220
2 1 198706883 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1190488467
rs1190488467
2 4 86701433 missense variant A/C snv 8.1E-06 0.010 1.000 1 2010 2010