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: rs1057517691
rs1057517691
CEP78
1 1.000 9 78240365 splice donor variant G/T snv 0.700 0
dbSNP: rs1057517692
rs1057517692
CEP78
1 1.000 9 78243490 frameshift variant C/- delins 0.700 0
dbSNP: rs1057517693
rs1057517693
CEP78
1 1.000 9 78240369 splice region variant G/A snv 0.700 0
dbSNP: rs1057517694
rs1057517694
CEP78
3 0.882 0.200 9 78248290 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1057517695
rs1057517695
CEP78
3 0.882 0.200 9 78241729 frameshift variant T/- delins 0.700 0
dbSNP: rs1057518753
rs1057518753
CEP78
1 1.000 9 78265370 splice acceptor variant A/G snv 0.700 0
dbSNP: rs745750156
rs745750156
CEP78
1 1.000 9 78253282 splice region variant G/A snv 2.8E-05 0.700 0