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: rs121918198
rs121918198
RPGRIP1L
3 0.882 0.320 16 53652844 missense variant T/G snv 6.4E-05 3.5E-05 0.800 1.000 5 2007 2015
dbSNP: rs121918200
rs121918200
RPGRIP1L
1 1.000 0.280 16 53652604 missense variant C/G;T snv 1.6E-05 0.800 1.000 4 2007 2012
dbSNP: rs532768944
rs532768944
RPGRIP1L
1 1.000 0.280 16 53652657 missense variant G/A snv 7.5E-04 1.0E-04 0.700 1.000 4 2007 2012
dbSNP: rs797045104
rs797045104
RPGRIP1L
1 1.000 0.280 16 53622350 frameshift variant -/GA delins 2.9E-05 0.700 1.000 2 2007 2007
dbSNP: rs121918204
rs121918204
RPGRIP1L
5 0.827 0.360 16 53652637 stop gained G/A snv 6.4E-05 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs145665129
rs145665129
RPGRIP1L
2 0.925 0.360 16 53645895 stop gained G/A snv 1.6E-05 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs267607020
rs267607020
RPGRIP1L
2 0.925 0.360 16 53652712 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs778149316
rs778149316
RPGRIP1L
3 0.882 0.320 16 53652977 frameshift variant -/T delins 4.0E-05 1.8E-04 0.700 1.000 1 2015 2015
dbSNP: rs778533826
rs778533826
RPGRIP1L
1 1.000 0.280 16 53619112 stop gained G/A;C snv 1.6E-05 0.700 1.000 1 2015 2015
dbSNP: rs863225215
rs863225215
RPGRIP1L
1 1.000 0.280 16 53646004 splice acceptor variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs863225216
rs863225216
RPGRIP1L
1 1.000 0.280 16 53652966 frameshift variant T/- del 0.700 1.000 1 2015 2015
dbSNP: rs863225217
rs863225217
RPGRIP1L
1 1.000 0.280 16 53664981 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs863225218
rs863225218
RPGRIP1L
1 1.000 0.280 16 53664869 splice donor variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs863225219
rs863225219
RPGRIP1L
1 1.000 0.280 16 53610966 splice donor variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs121918199
rs121918199
RPGRIP1L
1 1.000 0.280 16 53686452 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs121918203
rs121918203
RPGRIP1L
3 0.882 0.360 16 53645694 stop gained G/A snv 2.0E-05 4.9E-05 0.700 0
dbSNP: rs1555616593
rs1555616593
RPGRIP1L
1 1.000 0.280 16 53696263 stop gained G/A snv 0.700 0
dbSNP: rs1567800920
rs1567800920
RPGRIP1L
2 1.000 0.280 16 53619047 stop gained C/T snv 0.700 0
dbSNP: rs375776718
rs375776718
RPGRIP1L
1 1.000 0.280 16 53664936 missense variant C/G;T snv 8.0E-06; 1.6E-04 0.700 0
dbSNP: rs387906243
rs387906243
RPGRIP1L
1 1.000 0.280 16 53648999 frameshift variant T/- delins 0.700 0
dbSNP: rs772900011
rs772900011
RPGRIP1L
1 1.000 0.280 16 53656522 missense variant T/C snv 8.0E-06 0.700 0
dbSNP: rs797045918
rs797045918
RPGRIP1L
1 1.000 0.280 16 53664954 frameshift variant -/T delins 7.0E-06 0.700 0
dbSNP: rs898062661
rs898062661
RPGRIP1L
1 1.000 0.280 16 53652790 missense variant A/G snv 1.4E-05 0.700 0