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: rs1057519371
rs1057519371
HNF1B ; LOC105371754
2 0.925 0.200 17 37710576 frameshift variant -/G delins 0.700 1.000 1 2017 2017
dbSNP: rs1555202126
rs1555202126
CEP290
2 0.925 0.120 12 88071929 splice region variant G/C snv 0.700 0
dbSNP: rs1555454847
rs1555454847
PKD1
4 0.882 0.240 16 2109266 inframe deletion CAC/- delins 0.700 0
dbSNP: rs376493409
rs376493409
CEP290
12 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 0