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: rs1044471
rs1044471
ADIPOR2
4 1.000 0.080 12 1787790 3 prime UTR variant C/T snv 0.38 0.010 1.000 1 2013 2013
dbSNP: rs1047344644
rs1047344644
GSTK1 ; LOC105375545
2 7 143268092 missense variant C/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.010 1.000 1 2017 2017
dbSNP: rs10486567
rs10486567
JAZF1
9 0.851 0.120 7 27936944 intron variant G/A snv 0.28 0.010 < 0.001 1 2010 2010
dbSNP: rs1048829
rs1048829
BMPR2
4 0.925 0.080 2 202565733 3 prime UTR variant T/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
11 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2016 2016
dbSNP: rs104893751
rs104893751
OGG1
5 0.882 0.240 3 9750423 missense variant G/A;C snv 2.2E-03; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs104894309
rs104894309
SDHD ; TIMM8B
7 0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs104894365
rs104894365
KRAS
9 0.827 0.320 12 25245345 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1049074086
rs1049074086
CTSD
9 0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1049334
rs1049334
CAV1
6 0.851 0.280 7 116560326 3 prime UTR variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1050171
rs1050171
EGFR ; EGFR-AS1
6 0.851 0.120 7 55181370 missense variant G/A;C snv 0.52; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs10505346
rs10505346
TNFRSF11B ; COLEC10
4 0.925 0.080 8 118951604 intron variant G/T snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs10505476
rs10505476
POU5F1B ; CASC8 ; PCAT1
3 8 127395871 intron variant C/T snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2011 2011
dbSNP: rs10519097
rs10519097
RORA
18 0.708 0.320 15 60997989 intron variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs1052823
rs1052823
TNFAIP2
3 1.000 0.040 14 103137233 3 prime UTR variant G/A;C;T snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1052912
rs1052912
TNFAIP2
3 1.000 0.040 14 103137316 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2013 2013
dbSNP: rs1053667
rs1053667
TOGARAM1
4 0.925 0.120 14 45073835 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs1056628
rs1056628
MMP9 ; SLC12A5-AS1
2 20 46016407 3 prime UTR variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1056663
rs1056663
HUS1
3 1.000 7 47965365 synonymous variant C/T snv 0.49 0.46 0.010 1.000 1 2012 2012
dbSNP: rs1056827
rs1056827
CYP1B1 ; CYP1B1-AS1
24 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1.000 1 2015 2015
dbSNP: rs1057035
rs1057035
DICER1
12 0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs1057516968
rs1057516968
DPYD
3 1.000 0.080 1 97515785 stop gained G/A snv 8.0E-06 3.5E-05 0.010 1.000 1 2016 2016