Source: BEFREE ×
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: 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
2 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
2 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
dbSNP: rs144944885
rs144944885
RABL2B ; RPL23AP82
2 1.000 0.040 22 50776482 intron variant G/- delins 0.010 1.000 1 2017 2017
dbSNP: rs1550117
rs1550117
DNMT3A
11 0.790 0.320 2 25343038 upstream gene variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs17115149
rs17115149
CYP17A1
4 0.882 0.160 10 102837961 upstream gene variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1713449
rs1713449
TEP1
2 1.000 0.080 14 20373548 missense variant C/T snv 0.26 0.29 0.010 1.000 1 2014 2014
dbSNP: rs1799929
rs1799929
NAT2
11 0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36 0.010 1.000 1 2018 2018
dbSNP: rs1799931
rs1799931
NAT2
14 0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs1801131
rs1801131
MTHFR
92 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012
dbSNP: rs1801260
rs1801260
CLOCK ; TMEM165
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs1805388
rs1805388
LIG4
11 0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16 0.010 1.000 1 2013 2013
dbSNP: rs191547831
rs191547831
SLC26A3
1 7 107772054 missense variant C/G snv 8.4E-04 8.6E-04 0.010 1.000 1 2017 2017
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: rs2070565
rs2070565
DNMT3L
3 0.925 0.080 21 44261270 splice region variant T/C snv 0.70 0.75 0.010 1.000 1 2012 2012
dbSNP: rs2070923
rs2070923
PRM2 ; RMI2 ; LOC105371082
1 16 11275998 intron variant G/C;T snv 4.1E-06; 0.41 0.010 1.000 1 2015 2015
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