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: rs1557569831
rs1557569831
SZT2
8 0.925 0.120 1 43431458 splice acceptor variant A/G snv 0.700 0
dbSNP: rs746200792
rs746200792
SZT2
8 0.925 0.120 1 43437254 inframe deletion TGT/- delins 0.700 0
dbSNP: rs765379963
rs765379963
TMCO1
19 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1284683098
rs1284683098
HOXD13
1 1.000 0.120 2 176093070 synonymous variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1553329427
rs1553329427
SRD5A2
4 0.851 0.200 2 31580683 frameshift variant A/- del 0.700 0
dbSNP: rs397517154
rs397517154
SOS1
16 0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 0.700 0
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: rs1057519925
rs1057519925
PIK3CA
25 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
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: 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: rs907715
rs907715
IL21
11 0.752 0.520 4 122613898 intron variant C/T snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs61729366
rs61729366
FRAS1
6 0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 0.700 0
dbSNP: rs1057518944
rs1057518944
NIPBL
9 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
dbSNP: rs1554199368
rs1554199368
NSD1
12 0.827 0.160 5 177256956 missense variant C/T snv 0.700 0
dbSNP: rs587784105
rs587784105
NSD1
19 0.732 0.440 5 177235863 stop gained G/A snv 0.700 0
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: 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: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
13 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
dbSNP: rs869312712
rs869312712
ARID1B
3 0.925 0.360 6 157084866 stop gained C/T snv 0.700 0
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: 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: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs759317757
rs759317757
OTUD6B
12 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
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: rs1060499548
rs1060499548
ABL1
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017