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: rs10841496
rs10841496
1 1.000 0.036 12 20368720 intron variant C/A snp 0.44 0.700 1 2010 2010
dbSNP: rs1399645
rs1399645
1 1.000 0.036 2 139390262 intergenic variant C/T snp 9.1E-02 0.700 1 2010 2010
dbSNP: rs6068020
rs6068020
1 1.000 0.036 20 51943113 intergenic variant T/C snp 0.62 0.700 1 2010 2010
dbSNP: rs9814870
rs9814870
1 1.000 0.036 3 95969999 intergenic variant A/G snp 0.20 0.700 1 2010 2010
dbSNP: rs1799983
rs1799983
138 0.475 0.786 7 150999023 missense variant T/A,G snp 0.75 0.76 0.040 1.000 4 2008 2017
dbSNP: rs1805087
rs1805087
MTR
75 0.538 0.679 1 236885200 missense variant A/G snp 0.20 0.21 0.030 1.000 3 2007 2016
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.030 0.333 3 2012 2016
dbSNP: rs1799945
rs1799945
152 0.475 0.679 6 26090951 missense variant C/G snp 0.11 9.9E-02 0.020 < 0.001 2 2006 2012
dbSNP: rs1800562
rs1800562
175 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.020 0.500 2 2006 2012
dbSNP: rs6166
rs6166
15 0.715 0.250 2 48962782 missense variant C/T snp 0.57 0.57 0.020 1.000 2 2011 2013
dbSNP: rs1042389
rs1042389
1 1.000 0.036 19 41018248 3 prime UTR variant T/C snp 0.22 0.010 1.000 1 2015 2015
dbSNP: rs1042522
rs1042522
56 0.563 0.643 17 7676154 stop gained G/C,T snp 0.67 0.62 0.010 1.000 1 2013 2013
dbSNP: rs10459953
rs10459953
2 0.923 0.036 17 27800492 5 prime UTR variant C/A,G,T snp 0.65 0.010 < 0.001 1 2016 2016
dbSNP: rs1048943
rs1048943
53 0.572 0.571 15 74720644 missense variant T/C snp 0.11 5.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs1052133
rs1052133
77 0.533 0.643 3 9757089 missense variant C/G snp 0.27 0.22 0.010 1.000 1 2013 2013
dbSNP: rs1056836
rs1056836
31 0.634 0.500 2 38071060 missense variant G/C snp 0.63 0.50 0.010 1.000 1 2012 2012
dbSNP: rs1059060
rs1059060
3 0.878 0.036 7 5977709 missense variant snp 0.010 1.000 1 2012 2012
dbSNP: rs11467497
rs11467497
1 1.000 0.036 20 145515 frameshift variant GCAAA/G in-del 0.15 0.17 0.010 1.000 1 2016 2016
dbSNP: rs11710967
rs11710967
1 1.000 0.036 3 16598568 missense variant T/A,C snp 0.11 0.10 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
29 0.652 0.571 1 11796309 missense variant A/G snp 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121918346
rs121918346
4 0.846 0.036 3 16598169 missense variant T/C,G snp 8.0E-06 3.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs121965059
rs121965059
OAT
4 0.923 0.107 10 124403892 missense variant G/A snp 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs13181
rs13181
82 0.525 0.536 19 45351661 stop gained T/A,G snp 4.0E-06; 0.32 0.32 0.010 1.000 1 2011 2011
dbSNP: rs138385391
rs138385391
2 1.000 0.036 X 133026484 missense variant C/T snp 4.5E-03 3.7E-03 0.010 1.000 1 2016 2016
dbSNP: rs139524801
rs139524801
AR
4 0.846 0.143 X 67643283 missense variant G/A,T snp 1.8E-04 4.6E-04 0.010 1.000 1 2009 2009