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: rs4778889
rs4778889
IL16
24 0.683 0.480 15 81296654 intron variant T/C snv 0.24 0.020 1.000 2 2015 2016
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2018 2018
dbSNP: rs2228230
rs2228230
PDGFRA
5 0.882 0.120 4 54285873 synonymous variant C/A;T snv 4.0E-06; 0.18 0.010 1.000 1 2017 2017
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2018 2018
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs5030805
rs5030805
VHL
7 0.790 0.280 3 10142086 missense variant G/A;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2011 2011
dbSNP: rs6721961
rs6721961
NFE2L2
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2019 2019
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2011 2011