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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2018 2018
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2003 2012
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2003 2012
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2003 2012
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2012 2012
dbSNP: rs144848
rs144848
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2011 2011
dbSNP: rs4977756
rs4977756
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs1063192
rs1063192
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs61754966
rs61754966
NBN
23 0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 0.020 1.000 2 2010 2011
dbSNP: rs121918457
rs121918457
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs879255280
rs879255280
SMO
22 0.701 0.200 7 129206557 missense variant C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs2157719
rs2157719
17 0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs3734254
rs3734254
14 0.752 0.240 6 35427233 3 prime UTR variant C/T snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs80358638
rs80358638
9 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs13306747
rs13306747
6 0.807 0.200 3 12416775 synonymous variant C/A;G;T snv 8.0E-06; 4.2E-03; 7.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs63750451
rs63750451
7 0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs922324159
rs922324159
5 0.827 0.040 2 15941962 5 prime UTR variant G/A snv 2.4E-04 0.010 1.000 1 2012 2012
dbSNP: rs143277125
rs143277125
6 0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs755103500
rs755103500
4 0.851 0.160 9 95516820 start lost T/C;G snv 8.4E-06; 4.2E-06 0.010 1.000 1 2009 2009
dbSNP: rs766905791
rs766905791
4 0.851 0.160 9 95485815 start lost T/C snv 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs1400239417
rs1400239417
ALK
4 0.882 0.040 2 29220756 missense variant T/A;G snv 4.0E-06 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs6008197
rs6008197
3 0.882 0.040 22 46224519 intron variant G/C snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs765602971
rs765602971
NBN
3 0.882 0.040 8 89970503 missense variant T/C snv 4.0E-06 0.010 1.000 1 2010 2010