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: 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: rs267608152
rs267608152
1 1.000 0.160 7 5977643 missense variant A/C;G snv 0.700 1.000 10 1999 2013
dbSNP: rs267608174
rs267608174
1 1.000 0.160 7 5973460 missense variant C/T snv 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: rs587779341
rs587779341
1 1.000 0.160 7 5999269 missense variant C/T snv 4.0E-06; 4.0E-06 0.700 1.000 10 1999 2013
dbSNP: rs1057515571
rs1057515571
1 1.000 0.160 7 5995591 frameshift variant C/- delins 0.700 0
dbSNP: rs1261282733
rs1261282733
1 1.000 0.160 7 5995564 frameshift variant A/- delins 0.700 0
dbSNP: rs1554294019
rs1554294019
1 1.000 0.160 7 5977759 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1554304745
rs1554304745
1 1.000 0.160 7 6003772 frameshift variant -/GA delins 0.700 0
dbSNP: rs374704824
rs374704824
1 1.000 0.160 7 5999193 missense variant C/G;T snv 3.7E-04 0.700 0
dbSNP: rs786201878
rs786201878
1 1.000 0.160 7 5992044 missense variant A/G;T snv 8.0E-06 0.700 0
dbSNP: rs587779345
rs587779345
2 0.925 0.200 7 5997342 missense variant G/C snv 4.0E-06 0.700 1.000 13 1999 2017
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: 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: rs730881919
rs730881919
2 1.000 0.160 7 6003981 stop gained C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs1458321358
rs1458321358
2 1.000 0.160 7 5997420 stop gained G/A snv 9.2E-06 0.700 0
dbSNP: rs267608158
rs267608158
2 0.925 0.160 7 5989798 splice donor variant A/T snv 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: rs587779342
rs587779342
3 0.925 0.200 7 5999199 missense variant T/G snv 8.0E-06 0.800 1.000 13 1999 2017
dbSNP: rs587781339
rs587781339
3 1.000 0.160 7 5992059 splice acceptor variant T/C;G snv 0.700 1.000 2 2014 2017
dbSNP: rs267608173
rs267608173
3 0.925 0.160 7 5978625 frameshift variant TTCT/- delins 0.700 1.000 1 2006 2006
dbSNP: rs763308607
rs763308607
3 1.000 0.160 7 6004059 splice acceptor variant C/G;T snv 4.0E-06; 8.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs1064794577
rs1064794577
3 1.000 0.160 7 5987294 stop gained C/A;T snv 0.700 0
dbSNP: rs267608159
rs267608159
3 1.000 0.160 7 5987526 frameshift variant TTT/-;TTTT;TTTTTT delins 0.700 0
dbSNP: rs587776789
rs587776789
RB1
3 0.925 0.200 13 48349024 splice donor variant G/A;T snv 0.700 0