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: rs1346786
rs1346786
EFEMP1
1 1.000 0.040 2 55881198 intron variant C/T snv 0.36 0.030 1.000 3 2015 2017
dbSNP: rs16904140
rs16904140
CCDC26
1 1.000 0.040 8 129653397 intron variant G/A snv 0.19 0.700 1.000 2 2009 2011
dbSNP: rs2065134
rs2065134
SLC7A7
1 1.000 0.040 14 22788980 intron variant T/C;G snv 0.020 0.500 2 2013 2017
dbSNP: rs494560
rs494560
PHLDB1
1 1.000 0.040 11 118650844 non coding transcript exon variant A/G snv 0.57 0.710 1.000 2 2011 2012
dbSNP: rs1048771
rs1048771
RAD54L ; LRRC41
1 1.000 0.040 1 46278228 synonymous variant C/A;T snv 4.0E-06; 0.15 0.010 1.000 1 2016 2016
dbSNP: rs10764901
rs10764901
MGMT ; LOC105378560
1 1.000 0.040 10 129716598 intron variant A/G snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs10842893
rs10842893
STK38L
1 1.000 0.040 12 27269953 intron variant C/T snv 7.1E-02 0.710 1.000 1 2019 2019
dbSNP: rs11216943
rs11216943 		1 1.000 0.040 11 118685689 downstream gene variant G/A snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs1131239
rs1131239
ANXA5
1 1.000 0.040 4 121696590 5 prime UTR variant G/A;C;T snv 0.12 0.17 0.010 1.000 1 2019 2019
dbSNP: rs115303435
rs115303435
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63694806 missense variant G/A snv 3.2E-03 1.1E-03 0.010 1.000 1 2018 2018
dbSNP: rs11730
rs11730
NMI
1 1.000 0.040 2 151270497 3 prime UTR variant A/G snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs1197458016
rs1197458016
SNAPC3 ; PSIP1
1 1.000 0.040 9 15466782 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs12433985
rs12433985
SLC7A7
1 1.000 0.040 14 22780330 non coding transcript exon variant A/G snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs12436190
rs12436190
SLC7A7
1 1.000 0.040 14 22788107 intron variant A/G snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs12544799
rs12544799
CCDC26
1 1.000 0.040 8 129651264 intron variant A/G snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs12718945
rs12718945
EGFR
1 1.000 0.040 7 55125270 intron variant T/G snv 0.51 0.010 < 0.001 1 2017 2017
dbSNP: rs12888930
rs12888930
SLC7A7
1 1.000 0.040 14 22779374 intron variant C/T snv 0.32 0.010 < 0.001 1 2017 2017
dbSNP: rs1336268032
rs1336268032
SOD2
1 1.000 0.040 6 159692718 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1339499
rs1339499
MAPKAP1
1 1.000 0.040 9 125644174 intron variant T/C snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs1344733
rs1344733
EFEMP1
1 1.000 0.040 2 55900892 intron variant T/C snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs1345354331
rs1345354331
GPX1
1 1.000 0.040 3 49358221 missense variant A/C;T snv 6.8E-06; 6.8E-06 0.010 1.000 1 2012 2012
dbSNP: rs1431316232
rs1431316232
CDKN2B ; CDKN2B-AS1
1 1.000 0.040 9 22006021 missense variant A/G snv 0.010 1.000 1 1997 1997
dbSNP: rs145619195
rs145619195
ANXA5
1 1.000 0.040 4 121674585 intron variant T/C snv 9.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs147061479
rs147061479 		1 1.000 0.040 8 65264756 intergenic variant C/T snv 1.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs147960238
rs147960238
CD163
1 1.000 0.040 12 7485786 intron variant T/C snv 8.3E-03 0.010 1.000 1 2018 2018