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: rs17417407
rs17417407
PLCE1
1 1.000 0.080 10 94171330 missense variant G/A;T snv 3.2E-05; 0.17 0.020 1.000 2 2012 2013
dbSNP: rs2257440
rs2257440
TNFRSF6B ; RTEL1-TNFRSF6B
1 1.000 0.080 20 63696914 missense variant C/G;T snv 0.25 0.020 1.000 2 2010 2014
dbSNP: rs1009316
rs1009316
BAX
1 1.000 0.080 19 48955313 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs10138277
rs10138277
HEATR5A
1 1.000 0.080 14 31393927 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1033667
rs1033667
CHEK2
1 1.000 0.080 22 28734312 intron variant C/T snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs10882379
rs10882379
LOC105378438
1 1.000 0.080 10 93991742 intergenic variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs11187870
rs11187870
PLCE1 ; NOC3L
1 1.000 0.080 10 94328109 3 prime UTR variant G/C snv 6.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs1129186
rs1129186
PEX6
1 1.000 0.080 6 42964464 synonymous variant C/T snv 0.48 0.57 0.010 1.000 1 2017 2017
dbSNP: rs11677
rs11677
PLA2G2A
1 1.000 0.080 1 19975471 3 prime UTR variant G/A snv 9.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs1170595036
rs1170595036
SDHC
1 1.000 0.080 1 161323623 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1206093523
rs1206093523
TGFBR2 ; LOC105377015
1 1.000 0.080 3 30606915 missense variant C/T snv 9.2E-06 0.010 1.000 1 2008 2008
dbSNP: rs12188136
rs12188136
LINC01411
1 1.000 0.080 5 174407635 intron variant A/G snv 0.30 0.010 < 0.001 1 2019 2019
dbSNP: rs1233960622
rs1233960622
PIK3CB
1 1.000 0.080 3 138699044 missense variant C/T snv 1.4E-05 0.010 < 0.001 1 2015 2015
dbSNP: rs12602885
rs12602885
RPTOR
1 1.000 0.080 17 80545369 5 prime UTR variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs12894364
rs12894364 		1 1.000 0.080 14 37588860 downstream gene variant C/T snv 7.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs1322178
rs1322178
ATG5
1 1.000 0.080 6 106183905 intron variant C/T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs1565684
rs1565684
NAT2
1 1.000 0.080 8 18389154 upstream gene variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1618536
rs1618536
ERCC2
1 1.000 0.080 19 45368348 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1642764
rs1642764
ATP1B2
1 1.000 0.080 17 7654516 intron variant C/T snv 0.45 0.700 1.000 1 2014 2014
dbSNP: rs17109671
rs17109671
PLCE1
1 1.000 0.080 10 94031856 synonymous variant T/C snv 0.31 0.40 0.010 1.000 1 2019 2019
dbSNP: rs1789903
rs1789903
ADH1B ; ADH1C
1 1.000 0.080 4 99340884 intron variant C/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1886302
rs1886302
PADI4
1 1.000 0.080 1 17308901 intron variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs2070999
rs2070999
NQO2 ; NQO2-AS1
1 1.000 0.080 6 2999495 non coding transcript exon variant A/G snv 0.70 0.010 < 0.001 1 2014 2014
dbSNP: rs2145146
rs2145146
TTC6
1 1.000 0.080 14 37598943 intron variant C/A snv 0.010 1.000 1 2016 2016
dbSNP: rs2289519
rs2289519
SERPINB5
1 1.000 0.080 18 63493054 missense variant T/C snv 0.66 0.72 0.010 1.000 1 2015 2015