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: rs1222174664
rs1222174664
SLCO6A1
5 0.827 0.280 5 102477801 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1249958
rs1249958
PPP1R1A
3 0.925 0.040 12 54582053 missense variant C/T snv 2.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs1253810269
rs1253810269
ARID1A
3 0.882 0.080 1 26696971 missense variant G/A snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs12564445
rs12564445
TNNT2
5 0.851 0.040 1 201376359 intron variant G/A snv 0.27 0.010 < 0.001 1 2013 2013
dbSNP: rs12567209
rs12567209 		6 0.807 0.080 1 162066689 upstream gene variant G/A snv 8.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs1258130495
rs1258130495
EDNRA
3 0.882 0.040 4 147485727 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs13003941
rs13003941
ERBB4
2 0.925 0.040 2 211378978 3 prime UTR variant G/C;T snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1303946678
rs1303946678
CYP2D6 ; NDUFA6-DT
3 0.925 0.040 22 42126851 missense variant C/G snv 0.010 1.000 1 2005 2005
dbSNP: rs13058338
rs13058338
RAC2
4 1.000 0.040 22 37236730 intron variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1337916669
rs1337916669
HFE ; LOC108783645
2 0.925 0.040 6 26092879 missense variant G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs140226130
rs140226130
CCDC178
8 0.790 0.200 18 33336845 intron variant -/CTTTTTGCT delins 7.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1429117513
rs1429117513
LAG3
2 0.925 0.040 12 6775316 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs150821281
rs150821281
PKP2
7 0.827 0.080 12 32878461 missense variant G/A snv 2.3E-03 2.5E-03 0.010 < 0.001 1 2016 2016
dbSNP: rs1535
rs1535
FADS2
24 0.752 0.240 11 61830500 intron variant A/G snv 0.31 0.010 1.000 1 2012 2012
dbSNP: rs1544223
rs1544223
ADORA3 ; TMIGD3
1 1.000 0.040 1 111503935 intron variant C/T snv 0.72 0.010 1.000 1 2018 2018
dbSNP: rs1595064
rs1595064
ERBB4
2 0.925 0.040 2 211378020 3 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1595065
rs1595065
ERBB4
2 0.925 0.040 2 211377916 3 prime UTR variant G/A snv 0.73 0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2019 2019
dbSNP: rs1739843
rs1739843
HSPB7
4 0.882 0.040 1 16016759 intron variant T/C snv 0.62 0.010 1.000 1 2010 2010
dbSNP: rs17740607
rs17740607
HDC
2 0.925 0.160 15 50263347 missense variant G/A;C snv 8.5E-02; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2014 2014
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2013 2013
dbSNP: rs1800206
rs1800206
PPARA
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs1800437
rs1800437
GIPR
13 0.827 0.160 19 45678134 missense variant G/C snv 0.18 0.17 0.010 1.000 1 2019 2019