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: rs587778865
rs587778865
RB1
1 1.000 0.080 13 48456314 stop gained T/A snv 0.700 0
dbSNP: rs587778864
rs587778864
RB1
1 1.000 0.080 13 48453020 stop gained C/T snv 0.700 0
dbSNP: rs587778863
rs587778863
RB1 ; LOC112268118
1 1.000 0.080 13 48381436 stop gained G/A snv 0.700 0
dbSNP: rs587778862
rs587778862
RB1
2 1.000 0.080 13 48307353 frameshift variant AG/- delins 0.700 0
dbSNP: rs587778861
rs587778861
RB1
1 1.000 0.080 13 48465033 stop gained T/A;C snv 4.0E-06 0.700 0
dbSNP: rs587778860
rs587778860
RB1
2 1.000 0.080 13 48463730 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs587778859
rs587778859
RB1
1 1.000 0.080 13 48459828 missense variant G/A snv 0.700 0
dbSNP: rs587778858
rs587778858
RB1
1 1.000 0.080 13 48453035 stop gained G/T snv 0.700 0
dbSNP: rs587778857
rs587778857
RB1 ; LOC112268118
1 1.000 0.080 13 48381444 splice donor variant G/A snv 0.700 0
dbSNP: rs587778855
rs587778855
RB1 ; LOC112268118
1 1.000 0.080 13 48367575 stop gained A/T snv 0.700 0
dbSNP: rs587778854
rs587778854
RB1
1 1.000 0.080 13 48345161 frameshift variant -/T delins 0.700 0
dbSNP: rs587778851
rs587778851
RB1
1 1.000 0.080 13 48476704 frameshift variant -/C delins 0.700 0
dbSNP: rs587778850
rs587778850
RB1
2 1.000 0.080 13 48473391 splice donor variant G/A;T snv 0.700 1.000 8 2003 2017
dbSNP: rs587778849
rs587778849
RB1
1 1.000 0.080 13 48463788 stop gained A/T snv 0.700 0
dbSNP: rs587778847
rs587778847
RB1 ; LOC112268118
1 1.000 0.080 13 48379607 missense variant G/T snv 0.700 0
dbSNP: rs587778846
rs587778846
RB1 ; LOC112268118
1 1.000 0.080 13 48377035 splice donor variant G/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs587778845
rs587778845
RB1 ; LOC112268118
1 1.000 0.080 13 48373443 stop gained T/A snv 0.700 0
dbSNP: rs587778844
rs587778844
RB1 ; LOC112268118
2 1.000 0.080 13 48367575 frameshift variant A/- delins 0.700 0
dbSNP: rs587778843
rs587778843
RB1 ; LOC112268118
1 1.000 0.080 13 48364969 stop gained G/T snv 0.700 0
dbSNP: rs587778842
rs587778842
RB1
2 1.000 0.080 13 48362859 stop gained C/T snv 0.700 1.000 5 1994 2016
dbSNP: rs587778841
rs587778841
RB1
1 1.000 0.080 13 48345137 frameshift variant TGCT/- del 0.700 0
dbSNP: rs587778840
rs587778840
RB1
1 1.000 0.080 13 48307359 frameshift variant A/- del 0.700 0
dbSNP: rs587778839
rs587778839
RB1
1 1.000 0.080 13 48476845 splice donor variant T/C snv 0.700 0
dbSNP: rs587778838
rs587778838
RB1
1 1.000 0.080 13 48473359 splice acceptor variant G/A snv 0.700 0
dbSNP: rs587778837
rs587778837
RB1
1 1.000 0.080 13 48465331 frameshift variant G/- delins 0.700 0