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: rs353163
rs353163
TMPRSS11A ; UBA6-AS1
4 0.882 0.080 4 67919056 missense variant T/A;C;G snv 0.67 0.040 1.000 4 2006 2013
dbSNP: rs2014300
rs2014300
RUNX1
5 0.851 0.080 21 34985564 intron variant A/G;T snv 0.75 0.720 1.000 3 2012 2019
dbSNP: rs1050631
rs1050631
SLC39A6
4 0.882 0.080 18 36114157 synonymous variant G/A snv 0.33 0.30 0.020 1.000 2 2013 2019
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: rs3746803
rs3746803
SLC52A3
2 1.000 0.080 20 763738 missense variant G/A;C snv 0.10; 1.2E-05 0.020 1.000 2 2011 2016
dbSNP: rs621559
rs621559
EBNA1BP2 ; CFAP57 ; LOC105378685
5 0.827 0.080 1 43179740 intron variant G/A snv 0.18 0.020 1.000 2 2013 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: rs1042026
rs1042026
ADH1B
2 1.000 0.080 4 99307309 3 prime UTR variant T/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs10484761
rs10484761 		7 0.807 0.080 6 40834522 intergenic variant T/C snv 0.31 0.010 1.000 1 2014 2014
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: rs114673809
rs114673809
MTHFR ; C1orf167
3 0.882 0.080 1 11787703 3 prime UTR variant G/A snv 5.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs11473
rs11473
BSG
4 0.882 0.080 19 582982 3 prime UTR variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11548103
rs11548103
S100A14
4 0.882 0.080 1 153615864 splice region variant C/T snv 0.40 0.39 0.010 1.000 1 2017 2017
dbSNP: rs115797771
rs115797771
KLF5
6 0.807 0.080 13 73064505 intron variant A/C snv 5.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs11599672
rs11599672
PLCE1 ; LOC105378438
3 0.925 0.080 10 93993019 regulatory region variant T/G snv 0.21 0.010 1.000 1 2012 2012
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: rs11752942
rs11752942
LINC00951 ; TDRG1
3 0.882 0.080 6 40354019 intron variant A/G snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs1200055659
rs1200055659
S100A14 ; S100A16
4 0.851 0.080 1 153614902 missense variant G/A snv 7.0E-06 0.010 1.000 1 2004 2004
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