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: 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: 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: 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: 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
dbSNP: rs776428407
rs776428407
HOXA9 ; HOXA10 ; HOXA10-HOXA9
1 1.000 0.120 7 27174194 missense variant C/A;T snv 4.3E-06; 4.3E-06 0.010 1.000 1 2009 2009
dbSNP: rs398122886
rs398122886
INSL3
1 1.000 0.120 19 17817033 stop gained G/A snv 1.6E-05 7.0E-06 0.700 0
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: 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: 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: 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: 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: 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: 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: 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: rs6932902
rs6932902
ESR1
3 0.882 0.160 6 152055389 intron variant G/A snv 0.22 0.010 < 0.001 1 2008 2008
dbSNP: rs869312712
rs869312712
ARID1B
3 0.925 0.360 6 157084866 stop gained C/T snv 0.700 0
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: rs1135402740
rs1135402740
SMCHD1
4 0.925 0.240 18 2674018 missense variant T/G snv 0.700 1.000 1 2017 2017