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: rs747831095
rs747831095
CDK5RAP2
1 1.000 0.120 9 120443671 frameshift variant C/- del 3.2E-05 7.0E-05 0.700 1.000 2 2005 2016
dbSNP: rs869025200
rs869025200
CDK5RAP2
1 1.000 0.120 9 120409126 splice donor variant C/G snv 0.700 1.000 2 2005 2016
dbSNP: rs1554728351
rs1554728351
CDK5RAP2
1 1.000 0.120 9 120402984 frameshift variant -/AC delins 0.700 1.000 1 2017 2017
dbSNP: rs1554730137
rs1554730137
CDK5RAP2
1 1.000 0.120 9 120408402 frameshift variant GA/- delins 0.700 0
dbSNP: rs199422126
rs199422126
CDK5RAP2
2 0.925 0.120 9 120550852 stop gained A/T snv 0.700 0
dbSNP: rs373278668
rs373278668
CDK5RAP2
1 1.000 0.120 9 120408401 stop gained G/A snv 4.0E-06; 8.0E-06 3.5E-05 0.700 0
dbSNP: rs374351172
rs374351172
CDK5RAP2
1 1.000 0.120 9 120409185 stop gained C/A snv 2.8E-05; 1.2E-05 1.4E-05 0.700 0
dbSNP: rs387906274
rs387906274
CDK5RAP2
2 0.925 0.120 9 120419975 intron variant T/C snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs398122971
rs398122971
CDK5RAP2
1 1.000 0.120 9 120530103 stop gained C/A snv 0.700 0
dbSNP: rs587783387
rs587783387
CDK5RAP2
1 1.000 0.120 9 120419961 splice acceptor variant C/T snv 4.8E-05 1.4E-05 0.700 0
dbSNP: rs587783390
rs587783390
CDK5RAP2
2 0.925 0.120 9 120409290 stop gained G/A snv 2.6E-05 7.0E-06 0.700 0
dbSNP: rs587783392
rs587783392
CDK5RAP2
1 1.000 0.120 9 120402886 stop gained G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs587783393
rs587783393
CDK5RAP2
1 1.000 0.120 9 120536506 frameshift variant TGCCT/- del 4.2E-05 0.700 0
dbSNP: rs754282058
rs754282058
CDK5RAP2
1 1.000 0.120 9 120415130 stop gained G/A;C snv 2.4E-05; 4.0E-06 0.700 0
dbSNP: rs797045441
rs797045441
CDK5RAP2
1 1.000 0.120 9 120525060 frameshift variant C/- del 0.700 0