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: rs4678680
rs4678680
LOC105377022
1 1.000 0.080 3 32978543 intergenic variant G/T snv 0.73 0.810 1.000 3 2010 2016
dbSNP: rs10773771
rs10773771
PIWIL1
1 1.000 0.080 12 130371771 3 prime UTR variant C/T snv 0.50 0.020 0.500 2 2013 2017
dbSNP: rs1554040964
rs1554040964
TERT
1 1.000 0.080 5 1279417 missense variant C/G snv 0.700 1.000 2 2013 2017
dbSNP: rs2640908
rs2640908
PER3
1 1.000 0.080 1 7829881 synonymous variant C/T snv 0.22 0.22 0.020 1.000 2 2012 2014
dbSNP: rs3096380
rs3096380
CMTR2
1 1.000 0.080 16 71285743 missense variant G/A;C snv 0.94 0.700 1.000 2 2019 2019
dbSNP: rs34675408
rs34675408
OSMR
1 1.000 0.080 5 38883969 missense variant T/G snv 8.3E-02 9.7E-02 0.700 1.000 2 2019 2019
dbSNP: rs3803012
rs3803012
RAN
1 1.000 0.080 12 130876170 3 prime UTR variant A/C;G snv 0.020 0.500 2 2013 2017
dbSNP: rs4147581
rs4147581
GSTP1
1 1.000 0.080 11 67584114 intron variant C/G snv 0.49 0.39 0.020 1.000 2 2015 2016
dbSNP: rs584368
rs584368 		1 1.000 0.080 11 88232053 regulatory region variant C/T snv 0.70 0.700 1.000 2 2019 2019
dbSNP: rs6025211
rs6025211 		1 1.000 0.080 20 56864307 intergenic variant C/G;T snv 0.020 1.000 2 2018 2020
dbSNP: rs6078460
rs6078460 		1 1.000 0.080 20 12116249 intergenic variant A/C;G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs913493
rs913493
PCDH9
1 1.000 0.080 13 67148073 intron variant A/G snv 0.20 0.700 1.000 2 2019 2019
dbSNP: rs10052999
rs10052999
C6
1 1.000 0.080 5 41165642 intron variant C/T snv 7.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs1049112
rs1049112
PRH1 ; PRH2 ; PRR4 ; PRH1-PRR4
1 1.000 0.080 12 10930757 missense variant A/G;T snv 0.11; 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs1053096
rs1053096
NPAS2
1 1.000 0.080 2 100996153 3 prime UTR variant T/C snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs1057519982
rs1057519982
TP53
1 1.000 0.080 17 7674239 missense variant A/C;G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs1065403
rs1065403
SCD5
1 1.000 0.080 4 82629966 3 prime UTR variant T/C snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs10789859
rs10789859
SDHD
1 1.000 0.080 11 112089809 intron variant T/C snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs1081432
rs1081432 		1 1.000 0.080 2 6708412 intergenic variant T/C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs111904020
rs111904020
STAT3
1 1.000 0.080 17 42314141 3 prime UTR variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs112395617
rs112395617
JAK1 ; RAVER2
1 1.000 0.080 1 64833868 3 prime UTR variant -/TTAA;TTAATTAA delins 0.010 1.000 1 2018 2018
dbSNP: rs113155945
rs113155945
COL6A3
1 1.000 0.080 2 237378714 missense variant C/T snv 2.6E-02 1.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs1135519
rs1135519
MIR122 ; LOC107985182
1 1.000 0.080 18 58449913 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs11481
rs11481
CHKA ; TCIRG1
1 1.000 0.080 11 68052868 3 prime UTR variant T/A snv 0.60 0.010 1.000 1 2012 2012
dbSNP: rs11489585
rs11489585
APTR
1 1.000 0.080 7 77685535 intron variant A/G snv 0.24 0.010 1.000 1 2016 2016