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: rs121918303
rs121918303
RXFP2
1 1.000 0.120 13 31777398 missense variant A/C;G snv 4.6E-03; 4.0E-06 0.740 0.800 5 2002 2011
dbSNP: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 4 2001 2012
dbSNP: rs104894697
rs104894697
INSL3
1 1.000 0.120 19 17816972 missense variant G/A;C snv 3.5E-04; 4.0E-06 0.800 1.000 3 2000 2003
dbSNP: rs104894698
rs104894698
INSL3
1 1.000 0.120 19 17816946 missense variant G/A snv 4.0E-06 2.1E-05 0.800 1.000 3 2000 2003
dbSNP: rs121912555
rs121912555
INSL3
1 1.000 0.120 19 17816920 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.800 1.000 3 2000 2003
dbSNP: rs6523
rs6523
INSL3
4 0.882 0.200 19 17821329 missense variant T/C snv 0.65 0.70 0.030 0.667 3 2000 2019
dbSNP: rs1110061
rs1110061
NR5A1
7 0.807 0.200 9 124500523 missense variant C/A;G snv 4.3E-06; 0.10 0.020 1.000 2 2006 2015
dbSNP: rs1568303086
rs1568303086
TCF4
5 0.882 0.320 18 55228877 missense variant C/A snv 0.700 1.000 2 2011 2014
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: rs1057516033
rs1057516033
KAT6B
9 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1060499548
rs1060499548
ABL1
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1135402740
rs1135402740
SMCHD1
4 0.925 0.240 18 2674018 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs121912556
rs121912556
INSL3
1 1.000 0.120 19 17816945 missense variant C/T snv 6.9E-04 2.7E-04 0.710 1.000 1 2018 2018
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: rs1480612338
rs1480612338
DHH ; LOC105369759
4 0.851 0.160 12 49090416 missense variant C/T snv 4.3E-06 0.700 1.000 1 2018 2018
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: rs1554904772
rs1554904772
BRSK2
4 0.882 0.280 11 1443490 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1565573786
rs1565573786
DHH ; LOC105369759
6 0.807 0.160 12 49091165 stop gained G/C;T snv 0.700 1.000 1 2018 2018
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