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: rs1415125
rs1415125
LOC101928832
1 1.000 0.080 X 146868046 intergenic variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs2064836
rs2064836 		1 1.000 0.080 X 92628018 downstream gene variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2267531
rs2267531
GPC3
2 0.925 0.120 X 133986233 upstream gene variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2280883
rs2280883
FOXP3
9 0.827 0.280 X 49252667 intron variant T/C snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs3761549
rs3761549
FOXP3
18 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs4503258
rs4503258
FOXO4 ; CXorf65
1 1.000 0.080 X 71103387 3 prime UTR variant C/T snv 3.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs5945919
rs5945919
LINC00630
1 1.000 0.080 X 102963359 intergenic variant A/G snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs752745942
rs752745942
AR
1 1.000 0.080 X 67711555 missense variant C/G;T snv 5.5E-06; 5.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs80291436
rs80291436
VCX
3 1.000 0.080 X 7843706 missense variant T/A;C;G snv 4.9E-05; 0.19 0.010 1.000 1 2017 2017
dbSNP: rs863223904
rs863223904
ALAS2
5 0.827 0.200 X 55014829 missense variant C/T snv 6.1E-06 0.010 1.000 1 2006 2006
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 0.946 37 2011 2019
dbSNP: rs1012068
rs1012068
DEPDC5
5 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.760 1.000 7 2013 2019
dbSNP: rs131451
rs131451
MMP11 ; LOC107985577
4 0.882 0.120 22 23771357 intron variant C/T snv 0.82 0.010 1.000 1 2018 2018
dbSNP: rs132770
rs132770
XRCC6 ; DESI1
14 0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83 0.010 1.000 1 2013 2013
dbSNP: rs132774
rs132774
XRCC6
9 0.776 0.280 22 41635949 intron variant C/G snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs139394
rs139394
CBX7
1 1.000 0.080 22 39142209 intron variant A/C snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs1800206
rs1800206
PPARA
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs2011861
rs2011861
APOBEC3G
1 1.000 0.080 22 39084658 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs20551
rs20551
EP300
10 0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23 0.010 1.000 1 2012 2012
dbSNP: rs2143571
rs2143571
SAMM50
5 0.827 0.080 22 43995806 intron variant G/A snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs2267401
rs2267401
APOBEC3B ; APOBEC3A
1 1.000 0.080 22 38982116 intron variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2267437
rs2267437
XRCC6 ; DESI1
19 0.724 0.320 22 41620695 intron variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs2896019
rs2896019
PNPLA3
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs4821116
rs4821116
UBE2L3
3 0.925 0.120 22 21619030 intron variant C/A;T snv 0.18 0.010 1.000 1 2018 2018