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: rs2632512
rs2632512
RNF43 ; TSPOAP1-AS1
1 17 58374461 intron variant T/C snv 0.85 0.700 1.000 1 2018 2018
dbSNP: rs2736122
rs2736122
TERT
1 5 1257506 intron variant G/A snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs2787417
rs2787417 		1 14 36182597 intergenic variant T/C snv 0.66 0.010 1.000 1 2016 2016
dbSNP: rs2815063
rs2815063 		1 6 39294759 downstream gene variant C/A snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs2822388
rs2822388
LOC105377134
1 21 14035713 intron variant A/G snv 4.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs28793911
rs28793911
ADAMTS13
1 9 133434817 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs3024718
rs3024718
PROZ
1 13 113159539 intron variant A/G snv 0.17 0.010 1.000 1 2009 2009
dbSNP: rs3024772
rs3024772
PROZ ; PCID2
1 13 113171786 missense variant G/A;C snv 2.4E-02; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs3024778
rs3024778
PROZ
1 13 113160151 stop gained G/A;C;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs309247
rs309247
TMX3 ; CCDC102B
1 18 68715827 intron variant C/G snv 7.3E-02 0.700 1.000 1 2013 2013
dbSNP: rs324125
rs324125
ZNF880
1 19 52384029 missense variant A/G snv 0.13 0.16 0.700 1.000 1 2013 2013
dbSNP: rs339800
rs339800 		1 13 72159770 intergenic variant C/T snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs35276016
rs35276016
LINC02828
1 6 24740561 intron variant C/T snv 5.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs3732410
rs3732410
GOLGB1
1 3 121696873 missense variant T/C;G snv 0.23; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs380092
rs380092
IL1RN
1 2 113131323 intron variant T/A snv 0.57 0.010 1.000 1 2012 2012
dbSNP: rs3803277
rs3803277
ALOX5AP
1 13 30744171 non coding transcript exon variant C/A snv 0.49 0.45 0.010 1.000 1 2014 2014
dbSNP: rs3803539
rs3803539
GABARAPL3
1 15 90348750 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs3824259
rs3824259
IDO1
1 8 39912074 intron variant C/A snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs3909263
rs3909263 		1 13 72281083 intergenic variant G/C snv 0.33 0.700 1.000 1 2011 2011
dbSNP: rs398098426
rs398098426
ANKS1B
1 12 99246167 intron variant TT/-;T;TTT delins 0.20 0.010 1.000 1 2017 2017
dbSNP: rs41708
rs41708
TBXAS1
1 7 139847047 intron variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs456009
rs456009
PDE4D ; PART1
1 5 60500907 intron variant G/A snv 0.38 0.010 1.000 1 2009 2009
dbSNP: rs4711790
rs4711790 		1 6 44606085 intergenic variant C/T snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs4714801
rs4714801 		1 6 44616650 intergenic variant A/G snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs4769060
rs4769060
ALOX5AP
1 13 30763740 intron variant A/G snv 0.35 0.010 1.000 1 2015 2015