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: rs118192175
rs118192175
RYR1
3 0.882 0.160 19 38494564 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs12171755
rs12171755
DGKK
2 0.925 0.120 X 50436751 intron variant C/T snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs121918508
rs121918508
FGFR2
4 0.851 0.360 10 121488035 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs13124827
rs13124827 		1 1.000 0.120 4 156419058 intergenic variant C/T snv 0.37 0.700 1.000 1 2014 2014
dbSNP: rs1377148066
rs1377148066
CYP11A1
3 0.882 0.120 15 74339259 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs17747401
rs17747401
ADK
1 1.000 0.120 10 74640406 intron variant C/T snv 0.27 0.700 1.000 1 2014 2014
dbSNP: rs1858800
rs1858800
ZFHX3
2 1.000 0.120 16 72990377 intron variant C/T snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs2278705
rs2278705 		3 0.882 0.160 15 80402288 intron variant C/T snv 4.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs745564225
rs745564225
NR5A1
2 0.925 0.120 9 124493110 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs765057534
rs765057534
CYP19A1 ; MIR4713HG
4 0.851 0.240 15 51222402 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs776188535
rs776188535
FGFR2
3 0.882 0.120 10 121485414 missense variant C/T snv 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs779566502
rs779566502
FGFR2
3 0.882 0.120 10 121520026 missense variant C/T snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs9282858
rs9282858
SRD5A2
16 0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs9332964
rs9332964
SRD5A2
10 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.010 1.000 1 2017 2017
dbSNP: rs7063116
rs7063116 		2 0.925 0.120 X 50492002 intergenic variant G/A snv 0.39 0.030 1.000 3 2011 2019
dbSNP: rs1934179
rs1934179
DGKK
2 0.925 0.120 X 50439186 intron variant G/A snv 0.46 0.720 1.000 2 2011 2015
dbSNP: rs5000770
rs5000770
ARNT2
3 0.882 0.160 15 80424141 intron variant G/A snv 0.27 0.020 1.000 2 2012 2012
dbSNP: rs10214930
rs10214930
TAX1BP1
1 1.000 0.120 7 27745330 intron variant G/A snv 0.20 0.700 1.000 1 2014 2014
dbSNP: rs1057517779
rs1057517779
NR5A1
4 0.851 0.160 9 124493083 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs10979
rs10979
PHACTR2 ; PHACTR2-AS1
1 1.000 0.120 6 143568902 intron variant G/A snv 0.62 0.700 1.000 1 2014 2014
dbSNP: rs121907900
rs121907900
WT1
11 0.763 0.200 11 32392020 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs137852569
rs137852569
AR
10 0.752 0.320 X 67686030 missense variant G/A snv 9.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs2069521
rs2069521 		4 0.851 0.240 15 74746626 upstream gene variant G/A snv 4.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs28939085
rs28939085
HSD17B3
3 0.882 0.240 9 96240885 missense variant G/A snv 2.0E-05 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs4563609
rs4563609 		1 1.000 0.120 5 158490267 intron variant G/A snv 0.73 0.700 1.000 1 2014 2014