Source: ALL
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: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2015 2016
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.710 1.000 2 2019 2020
dbSNP: rs10757269
rs10757269
CDKN2B-AS1
4 1.000 0.040 9 22072265 intron variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs11077983
rs11077983
SLC16A3
1 17 82227312 upstream gene variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1194897557
rs1194897557
MTHFR
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121909613
rs121909613
FGA
5 0.882 0.160 4 154585712 splice acceptor variant G/A;C;T snv 4.8E-05; 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs1501299
rs1501299
ADIPOQ ; ADIPOQ-AS1
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1537372
rs1537372
CDKN2B-AS1
14 0.752 0.120 9 22103184 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs17019537
rs17019537
VIT
1 2 36708365 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2018 2018
dbSNP: rs1801177
rs1801177
LPL
14 0.742 0.240 8 19948197 missense variant G/A;C snv 1.4E-02; 2.0E-05 0.010 1.000 1 1995 1995
dbSNP: rs1801239
rs1801239
CUBN
8 0.827 0.160 10 16877053 missense variant T/C;G snv 8.9E-02; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1975514
rs1975514
COL4A1
1 13 110176544 intron variant T/C;G snv 0.36; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs2074633
rs2074633
HDAC9
2 7 18996297 3 prime UTR variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2013 2013
dbSNP: rs2296172
rs2296172
MACF1
4 1.000 0.080 1 39370145 missense variant A/G;T snv 0.19; 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs3130968
rs3130968 		2 1.000 0.040 6 31097294 regulatory region variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4660214
rs4660214
MACF1
1 1 39265878 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs4950928
rs4950928
CHI3L1
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4961
rs4961
ADD1
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.010 1.000 1 2002 2002
dbSNP: rs499832
rs499832
LOC105378490
1 10 113310381 intergenic variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2011 2011