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: rs587776789
rs587776789
RB1
3 0.925 0.200 13 48349024 splice donor variant G/A;T snv 0.700 0
dbSNP: rs267608174
rs267608174
1 1.000 0.160 7 5973460 missense variant C/T snv 0.700 1.000 10 1999 2013
dbSNP: rs63751466
rs63751466
5 0.882 0.200 7 5977629 stop gained G/A;T snv 2.7E-05 0.700 1.000 9 1995 2015
dbSNP: rs267608152
rs267608152
1 1.000 0.160 7 5977643 missense variant A/C;G snv 0.700 1.000 10 1999 2013
dbSNP: rs1554294019
rs1554294019
1 1.000 0.160 7 5977759 splice acceptor variant T/G snv 0.700 0
dbSNP: rs587779337
rs587779337
2 1.000 0.160 7 5978622 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 10 1999 2013
dbSNP: rs267608173
rs267608173
3 0.925 0.160 7 5978625 frameshift variant TTCT/- delins 0.700 1.000 1 2006 2006
dbSNP: rs63750695
rs63750695
6 0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 0.700 1.000 6 2008 2016
dbSNP: rs267608172
rs267608172
4 0.925 0.160 7 5982823 splice donor variant C/A;G;T snv 4.1E-06; 1.6E-05 0.700 1.000 4 2010 2015
dbSNP: rs587782704
rs587782704
4 0.925 0.160 7 5982881 frameshift variant T/- delins 0.700 0
dbSNP: rs267608161
rs267608161
6 0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05 0.700 1.000 10 1999 2013
dbSNP: rs587779332
rs587779332
1 1.000 0.160 7 5986777 missense variant T/G snv 0.700 1.000 10 1999 2013
dbSNP: rs201451115
rs201451115
4 0.925 0.160 7 5986826 stop gained T/A snv 4.0E-06 0.700 0
dbSNP: rs63750451
rs63750451
7 0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 0.700 0
dbSNP: rs1805324
rs1805324
1 1.000 0.160 7 5986899 missense variant C/G;T snv 1.6E-02 0.700 1.000 10 1999 2013
dbSNP: rs63750250
rs63750250
9 0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 0.700 0
dbSNP: rs63750947
rs63750947
2 0.925 0.200 7 5987012 missense variant G/T snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs1057515572
rs1057515572
8 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
dbSNP: rs1064794577
rs1064794577
3 1.000 0.160 7 5987294 stop gained C/A;T snv 0.700 0
dbSNP: rs63750685
rs63750685
2 0.925 0.200 7 5987328 missense variant G/A;C snv 1.6E-05; 4.2E-03 0.700 1.000 10 1999 2013
dbSNP: rs587778617
rs587778617
8 0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs267608159
rs267608159
3 1.000 0.160 7 5987526 frameshift variant TTT/-;TTTT;TTTTTT delins 0.700 0
dbSNP: rs267608158
rs267608158
2 0.925 0.160 7 5989798 splice donor variant A/T snv 0.700 0
dbSNP: rs63750049
rs63750049
4 0.925 0.160 7 5989923 frameshift variant T/- delins 0.700 0
dbSNP: rs200640585
rs200640585
9 0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 0.700 1.000 5 2010 2015