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: rs8187710
rs8187710
ABCC2
6 0.827 0.200 10 99851537 missense variant G/A snv 5.3E-02 8.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs10501920
rs10501920
CNTN5
3 0.882 0.080 11 99622442 intron variant C/G snv 0.14 0.010 1.000 1 2007 2007
dbSNP: rs762151808
rs762151808
SERPINA1
2 0.925 0.040 14 94378559 missense variant A/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs370579379
rs370579379
RBP4 ; FFAR4
6 0.827 0.160 10 93594018 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs767312316
rs767312316
UTS2R
1 1.000 0.040 17 82375046 stop gained C/A;G;T snv 6.6E-05; 1.7E-05; 1.7E-05 0.010 1.000 1 2015 2015
dbSNP: rs2549513
rs2549513
MAF
4 0.851 0.080 16 79516830 downstream gene variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs991104525
rs991104525
ARSB
4 0.882 0.160 5 78969051 missense variant G/A snv 1.2E-05 7.7E-05 0.010 1.000 1 2013 2013
dbSNP: rs8179090
rs8179090
TIMP2
12 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs587782927
rs587782927
DSP
4 0.882 0.080 6 7574084 splice region variant AG/- delins 0.700 0
dbSNP: rs28763958
rs28763958
DSP
3 0.882 0.080 6 7558186 missense variant A/G snv 6.4E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs9351814
rs9351814 		4 0.882 0.040 6 71484004 intergenic variant A/C snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs6787362
rs6787362
FRMD4B
2 0.925 0.040 3 69178228 intron variant A/G snv 9.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.020 1.000 2 2010 2014
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: 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: rs1815739
rs1815739
ACTN3
17 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs9303504
rs9303504
PRKCA
2 0.925 0.040 17 66319248 intron variant G/C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs9909004
rs9909004
PRKCA
2 0.925 0.040 17 66310015 intron variant C/T snv 0.59 0.020 1.000 2 2017 2019
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2009 2009
dbSNP: rs10189761
rs10189761 		4 0.882 0.120 2 646364 intergenic variant T/A snv 0.82 0.010 1.000 1 2019 2019
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: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2014 2014
dbSNP: rs3787429
rs3787429
HRH3
1 1.000 0.040 20 62216348 missense variant C/G;T snv 4.5E-06; 0.45 0.010 1.000 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: rs748379243
rs748379243
ERCC8
6 0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 0.700 0