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: rs2708861
rs2708861
HUS1
6 0.851 0.120 7 47977120 intron variant T/G snv 0.46 0.010 1.000 1 2012 2012
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs34289250
rs34289250
BRIP1
2 0.925 0.120 17 61803285 intron variant T/C snv 7.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs34357515
rs34357515
NCLN
1 1.000 0.120 19 3197622 intron variant TTT/-;T;TT;TTTT;TTTTT;TTTTTT;TTTTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs3842595
rs3842595
SNCAIP ; MGC32805
1 1.000 0.120 5 122442912 intron variant A/-;AA;AAA delins 0.700 1.000 1 2016 2016
dbSNP: rs3923087
rs3923087
AXIN2
5 0.827 0.160 17 65553143 intron variant T/C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs4533622
rs4533622
CTNNB1
6 0.807 0.240 3 41200847 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4648068
rs4648068
NFKB1
9 0.790 0.240 4 102597148 intron variant A/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs4648551
rs4648551
TP73
3 0.882 0.120 1 3716166 intron variant G/A snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs481519
rs481519
NEK10
17 0.708 0.280 3 27285723 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4988344
rs4988344
BRIP1
4 0.882 0.120 17 61847251 intron variant G/C snv 0.20 0.15 0.010 1.000 1 2007 2007
dbSNP: rs5013329
rs5013329
NSUN4
6 0.827 0.160 1 46349419 intron variant C/T snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs56404467
rs56404467
FRY
17 0.708 0.280 13 32265853 intron variant G/A snv 1.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs567534295
rs567534295
BRCA1
3 0.882 0.120 17 43048090 intron variant C/T snv 2.8E-05 0.010 1.000 1 2020 2020
dbSNP: rs58355101
rs58355101
CNOT2
1 1.000 0.120 12 70257391 intron variant C/T snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs58722170
rs58722170
RSPO1
2 0.925 0.120 1 37630749 intron variant G/C snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs59923016
rs59923016
ZNF423
1 1.000 0.120 16 49765545 intron variant CA/-;CACA;CACACA;CACACACA;CACACACACA delins 0.700 1.000 1 2019 2019
dbSNP: rs6005807
rs6005807
TTC28 ; LOC101929594
2 0.925 0.120 22 28538325 intron variant T/C snv 0.89 0.700 1.000 1 2017 2017
dbSNP: rs638820
rs638820
GSTM2 ; GSTM4
5 0.827 0.160 1 109667284 intron variant G/A snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs6456822
rs6456822
GPX6
1 1.000 0.120 6 28512858 intron variant T/C snv 0.41 0.700 1.000 1 2017 2017
dbSNP: rs6695978
rs6695978
TP73
3 0.882 0.120 1 3731781 intron variant G/A snv 7.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs67164370
rs67164370
RASSF2
4 0.851 0.120 20 4787830 intron variant -/AGGGACT ins 0.010 1.000 1 2011 2011
dbSNP: rs7207826
rs7207826
SKAP1
2 0.925 0.120 17 48423311 intron variant T/C snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs73110464
rs73110464
KRT8
17 0.708 0.280 12 52918828 intron variant C/T snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs7405776
rs7405776
HNF1B
6 0.807 0.120 17 37733029 intron variant G/A;C snv 0.700 1.000 1 2017 2017