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: rs1555979575
rs1555979575
CLDN2 ; MORC4
2 1.000 0.040 X 106928709 missense variant G/C snv 0.700 0
dbSNP: rs1569167515
rs1569167515
POLR2F ; SOX10
4 0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins 0.700 0
dbSNP: rs200750564
rs200750564
HOXD13
6 0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs864309485
rs864309485
TEX15
2 1.000 8 30846888 stop gained A/C snv 0.700 0
dbSNP: rs141425171
rs141425171
AR
3 1.000 0.160 X 67717574 missense variant A/G;T snv 2.2E-05; 5.5E-06 0.010 1.000 1 2001 2001
dbSNP: rs140027779
rs140027779
BOLL
1 2 197756444 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs372015936
rs372015936
BOLL
1 2 197743089 missense variant G/A;C snv 4.1E-05; 4.1E-06 0.010 1.000 1 2004 2004
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
dbSNP: rs3819392
rs3819392
KIT
2 1.000 0.040 4 54660528 intron variant G/A snv 0.28 0.010 1.000 1 2006 2006
dbSNP: rs1391383394
rs1391383394
DNMT3B
1 20 32791692 missense variant T/C snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs3750075
rs3750075
FKBP6 ; TRIM50
1 7 73329400 missense variant C/A;T snv 2.4E-03 8.7E-04 0.010 1.000 1 2007 2007
dbSNP: rs6523
rs6523
INSL3
4 0.882 0.200 19 17821329 missense variant T/C snv 0.65 0.70 0.010 1.000 1 2007 2007
dbSNP: rs1262199907
rs1262199907
AR
2 1.000 0.160 X 67685960 missense variant C/T snv 5.5E-06 9.5E-06 0.010 1.000 1 2008 2008
dbSNP: rs139524801
rs139524801
AR
3 0.925 0.160 X 67643283 missense variant G/A;T snv 1.8E-04 0.010 1.000 1 2008 2008
dbSNP: rs200390780
rs200390780
AR
2 1.000 0.160 X 67546570 missense variant C/T snv 1.5E-03 1.1E-03 0.010 1.000 1 2008 2008
dbSNP: rs35397110
rs35397110
USP26
2 X 133027131 missense variant G/A;T snv 3.8E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs36069724
rs36069724
CRISP2
2 6 49695854 missense variant A/G snv 1.7E-02 1.3E-02 0.010 1.000 1 2008 2008
dbSNP: rs777772044
rs777772044
MUC1
2 1.000 0.160 1 155186160 missense variant A/C;G snv 1.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs10841496
rs10841496
PDE3A
1 12 20368720 intron variant C/A snv 0.43 0.800 1.000 1 2010 2010
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2010 2010
dbSNP: rs1399645
rs1399645
LOC105373644
1 2 139390262 intergenic variant C/T snv 9.0E-02 0.800 1.000 1 2010 2010
dbSNP: rs2227290
rs2227290
EPPIN ; EPPIN-WFDC6
1 20 45547503 5 prime UTR variant G/T snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs6068020
rs6068020 		1 20 51943113 intergenic variant T/C snv 0.63 0.800 1.000 1 2010 2010
dbSNP: rs6124715
rs6124715
EPPIN ; EPPIN-WFDC6
1 20 45548848 upstream gene variant C/G;T snv 0.010 1.000 1 2010 2010