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: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.100 0.882 17 2002 2016
dbSNP: rs1801131
rs1801131
49 0.599 0.607 1 11794419 missense variant T/G snp 0.29 0.26 0.020 1.000 2 2013 2018
dbSNP: rs752746786
rs752746786
27 0.769 0.357 1 1806503 missense variant A/C,G,T snp 4.0E-06 0.700 2 2015 2017
dbSNP: rs869312821
rs869312821
6 0.923 0.107 1 1806515 missense variant T/C snp 0.700 2 2015 2017
dbSNP: rs1217691063
rs1217691063
29 0.652 0.571 1 11796309 missense variant A/G snp 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1801133
rs1801133
86 0.533 0.714 1 11796321 missense variant G/A snp 0.31 0.26 0.010 1.000 1 2018 2018
dbSNP: rs1801265
rs1801265
6 0.821 0.214 1 97883329 missense variant A/G snp 0.77 0.72 0.010 1.000 1 2017 2017
dbSNP: rs1805087
rs1805087
MTR
75 0.538 0.679 1 236885200 missense variant A/G snp 0.20 0.21 0.010 1.000 1 2013 2013
dbSNP: rs201765376
rs201765376
MTR
10 0.744 0.214 1 236838504 synonymous variant C/T snp 1.6E-05 3.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs2295080
rs2295080
7 0.801 0.214 1 11262571 regulatory region variant G/C,T snp 0.55 0.010 1.000 1 2012 2012
dbSNP: rs2536
rs2536
5 0.821 0.179 1 11106656 3 prime UTR variant T/C snp 5.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs757891309
rs757891309
MTR
2 1.000 0.107 1 236850389 missense variant C/A,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs104893636
rs104893636
2 0.923 0.107 2 176151875 missense variant A/C,T snp 5.2E-06; 7.9E-04 5.7E-04 0.010 1.000 1 2006 2006
dbSNP: rs10519612
rs10519612
2 0.923 0.107 4 141732548 intron variant A/C snp 0.11 0.010 1.000 1 2015 2015
dbSNP: rs11099592
rs11099592
2 0.923 0.143 4 83309466 missense variant T/C snp 0.78 0.80 0.010 1.000 1 2007 2007
dbSNP: rs121913507
rs121913507
KIT
35 0.638 0.286 4 54733155 missense variant A/T snp 0.010 1.000 1 2008 2008
dbSNP: rs17007695
rs17007695
3 0.878 0.107 4 141788570 intergenic variant T/C snp 8.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs2231137
rs2231137
8 0.821 0.286 4 88139962 missense variant C/T snp 0.11 7.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs2231142
rs2231142
29 0.642 0.464 4 88131171 missense variant G/C,T snp 4.0E-06; 0.12 9.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs6535455
rs6535455
2 0.923 0.143 4 83310951 intron variant T/A,C snp 0.80 0.010 1.000 1 2007 2007
dbSNP: rs76996680
rs76996680
1 1.000 0.107 4 108163665 missense variant G/A snp 1.0E-03 6.7E-04 0.010 1.000 1 2016 2016
dbSNP: rs772470710
rs772470710
1 1.000 0.107 4 1961074 missense variant G/A snp 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1801394
rs1801394
60 0.577 0.643 5 7870860 missense variant A/G snp 0.47 0.46 0.010 1.000 1 2015 2015
dbSNP: rs408626
rs408626
2 0.923 0.107 5 80655314 non coding transcript exon variant T/C snp 0.47 0.010 1.000 1 2016 2016
dbSNP: rs442767
rs442767
2 0.923 0.107 5 80655677 intron variant G/T snp 0.28 0.010 1.000 1 2016 2016