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: 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: 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: rs1020397
rs1020397
ARNT2
3 0.882 0.160 15 80426396 intron variant G/C;T snv 0.010 1.000 1 2012 2012
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: rs1284683098
rs1284683098
HOXD13
1 1.000 0.120 2 176093070 synonymous variant G/A snv 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: 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
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: 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: 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: 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: rs7977932
rs7977932
LRRC43 ; IL31
10 0.763 0.320 12 122172836 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1057518944
rs1057518944
NIPBL
9 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1057519925
rs1057519925
PIK3CA
25 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
dbSNP: rs1114167291
rs1114167291
ANKRD11
10 0.790 0.280 16 89281225 stop gained C/A snv 0.700 0
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0