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: rs1003887
rs1003887
INSL3
3 0.882 0.240 19 17816591 3 prime UTR variant C/T snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs1020397
rs1020397
ARNT2
3 0.882 0.160 15 80426396 intron variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10407022
rs10407022
AMH ; MIR4321
3 0.882 0.200 19 2249478 missense variant G/T snv 0.77 0.74 0.010 1.000 1 2016 2016
dbSNP: rs1047233
rs1047233
INSL3
2 0.925 0.200 19 17821381 synonymous variant T/A;C;G snv 0.30 0.37 0.010 1.000 1 2019 2019
dbSNP: rs12508721
rs12508721
IL21-AS1
11 0.742 0.360 4 122623509 intron variant C/T snv 0.24 0.010 1.000 1 2016 2016
dbSNP: rs1284683098
rs1284683098
HOXD13
1 1.000 0.120 2 176093070 synonymous variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1364038551
rs1364038551
AR
1 1.000 0.120 X 67546090 missense variant G/T snv 9.4E-06 0.010 1.000 1 2009 2009
dbSNP: rs1386170575
rs1386170575
GPR42
1 1.000 0.120 19 35371534 missense variant G/A snv 3.7E-05 8.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs153109
rs153109
IL27
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs17855750
rs17855750
IL27
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1805105
rs1805105
AXIN1
11 0.776 0.280 16 346264 synonymous variant A/G snv 0.61 0.69 0.010 1.000 1 2015 2015
dbSNP: rs201247699
rs201247699
PTPN11
2 0.925 0.240 12 112486476 missense variant G/C snv 6.4E-05 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs2055979
rs2055979
IL21 ; IL21-AS1
6 0.827 0.320 4 122619586 intron variant C/A snv 0.23 0.010 1.000 1 2016 2016
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: rs2274911
rs2274911
GPRC6A
6 0.851 0.160 6 116809541 missense variant G/A snv 0.72 0.74 0.010 1.000 1 2016 2016
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: rs2286663
rs2286663
INSL3
2 0.925 0.200 19 17821480 synonymous variant C/T snv 0.10 7.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs2472680
rs2472680
NR1I2
3 0.882 0.160 3 119808929 intron variant T/C snv 0.90 0.010 1.000 1 2012 2012
dbSNP: rs370681
rs370681
AXIN1
6 0.807 0.200 16 342461 intron variant C/T snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs3757824
rs3757824
AHR ; LOC101927609
3 0.882 0.160 7 17296411 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs4758680
rs4758680
LRRC43
9 0.763 0.320 12 122170805 intron variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs4919686
rs4919686
CYP17A1 ; WBP1L ; CYP17A1-AS1
4 0.851 0.200 10 102832492 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2012 2012
dbSNP: rs5000770
rs5000770
ARNT2
3 0.882 0.160 15 80424141 intron variant G/A snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs554416372
rs554416372
WT1
5 0.827 0.160 11 32396397 missense variant C/A;G;T snv 2.0E-05; 8.0E-06; 9.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs570837260
rs570837260
INSL3
1 1.000 0.120 19 17821391 missense variant A/C snv 7.3E-04 5.5E-04 0.010 1.000 1 2009 2009