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: rs11204546
rs11204546
OR2W3
3 0.925 0.040 1 247896410 missense variant T/C;G snv 0.58; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2018 2018
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2014 2014
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs11467497
rs11467497
DEFB126
1 20 145515 frameshift variant CAAA/- delins 0.15 0.18 0.010 1.000 1 2015 2015
dbSNP: rs11531577
rs11531577
STAG3
2 1.000 0.040 7 100180604 missense variant G/T snv 0.18 0.17 0.010 1.000 1 2018 2018
dbSNP: rs1161498711
rs1161498711
STAG3 ; CASTOR3
1 7 100198492 missense variant T/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs116298211
rs116298211
AK7
4 0.882 0.160 14 96486941 missense variant T/C;G snv 1.5E-03 1.4E-03 0.010 1.000 1 2018 2018
dbSNP: rs11710967
rs11710967
DAZL
1 3 16598568 missense variant T/A;C snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs12097821
rs12097821 		4 0.882 0.040 1 106793679 regulatory region variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121918346
rs121918346
DAZL
5 0.882 0.040 3 16598169 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12348
rs12348
TUSC1
3 0.925 0.040 9 25677217 3 prime UTR variant T/C snv 0.44 0.010 < 0.001 1 2018 2018
dbSNP: rs1259503
rs1259503 		1 10 75232686 downstream gene variant C/G;T snv 0.010 1.000 1 2016 2016
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: rs12870438
rs12870438
EPSTI1
3 0.925 0.040 13 42906069 intron variant G/A snv 0.27 0.010 1.000 1 2015 2015
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: rs1377547190
rs1377547190
RAG1
1 11 36573327 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs138385391
rs138385391
USP26
2 X 133026484 missense variant C/T snv 4.5E-03 3.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs1391383394
rs1391383394
DNMT3B
1 20 32791692 missense variant T/C snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1394205
rs1394205
FSHR
3 0.925 0.120 2 49154446 5 prime UTR variant C/T snv 0.32 0.28 0.010 1.000 1 2012 2012
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: 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: rs140685149
rs140685149
DEFB126
2 1.000 0.080 20 145670 frameshift variant CC/-;C;CCC delins 0.010 1.000 1 2015 2015
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: 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