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: rs1057515571
rs1057515571
1 1.000 0.160 7 5995591 frameshift variant C/- delins 0.700 0
dbSNP: rs1064794577
rs1064794577
3 1.000 0.160 7 5987294 stop gained C/A;T snv 0.700 0
dbSNP: rs1261282733
rs1261282733
1 1.000 0.160 7 5995564 frameshift variant A/- delins 0.700 0
dbSNP: rs1458321358
rs1458321358
2 1.000 0.160 7 5997420 stop gained G/A snv 9.2E-06 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: rs201451115
rs201451115
4 0.925 0.160 7 5986826 stop gained T/A snv 4.0E-06 0.700 0
dbSNP: rs267608150
rs267608150
7 0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 0.700 0
dbSNP: rs267608158
rs267608158
2 0.925 0.160 7 5989798 splice donor variant 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: rs374704824
rs374704824
1 1.000 0.160 7 5999193 missense variant C/G;T snv 3.7E-04 0.700 0
dbSNP: rs587776789
rs587776789
RB1
3 0.925 0.200 13 48349024 splice donor variant G/A;T snv 0.700 0
dbSNP: rs587778617
rs587778617
8 0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs587780062
rs587780062
8 0.827 0.240 7 5995614 stop gained G/A;C snv 8.0E-06; 8.0E-05 0.700 0
dbSNP: rs587781716
rs587781716
5 1.000 0.160 7 6003718 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs587782704
rs587782704
4 0.925 0.160 7 5982881 frameshift variant T/- delins 0.700 0
dbSNP: rs63750049
rs63750049
4 0.925 0.160 7 5989923 frameshift variant T/- delins 0.700 0
dbSNP: rs63750250
rs63750250
9 0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 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: rs63750947
rs63750947
2 0.925 0.200 7 5987012 missense variant G/T snv 8.0E-06 1.4E-05 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: rs876659736
rs876659736
4 0.925 0.200 7 5995612 missense variant T/A;C snv 8.0E-06 0.700 0
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: rs63750871
rs63750871
5 0.882 0.200 7 6002590 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 3 1998 2016
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