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: rs137852944
rs137852944
PKHD1
5 0.925 0.240 6 52083201 missense variant G/A snv 4.5E-04 4.7E-04 0.700 1.000 1 2017 2017
dbSNP: rs137852949
rs137852949
PKHD1
2 0.925 0.240 6 52058349 stop gained G/A;C snv 6.6E-04; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs746972457
rs746972457
PKHD1
2 0.925 0.240 6 52026044 frameshift variant G/- delins 5.1E-04 2.2E-04 0.700 1.000 1 2017 2017
dbSNP: rs781368899
rs781368899
PKHD1 ; LOC105375087
1 1.000 0.120 6 51659907 stop gained G/A snv 1.2E-05 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs1057518809
rs1057518809
FBN1
4 0.925 0.160 15 48425795 missense variant T/C snv 0.700 0
dbSNP: rs1210158408
rs1210158408
GANAB
1 1.000 0.120 11 62626369 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1465649718
rs1465649718
GANAB
1 1.000 0.120 11 62629653 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs1553927823
rs1553927823
PKD2
3 0.925 0.240 4 88065804 frameshift variant TACG/- delins 0.700 0
dbSNP: rs1555454847
rs1555454847
PKD1
4 0.882 0.240 16 2109266 inframe deletion CAC/- delins 0.700 0
dbSNP: rs1565088616
rs1565088616
GANAB
1 1.000 0.120 11 62626639 stop gained G/A snv 0.700 0
dbSNP: rs1565092566
rs1565092566
GANAB
1 1.000 0.120 11 62629009 missense variant T/C snv 0.700 0
dbSNP: rs1565092899
rs1565092899
GANAB
1 1.000 0.120 11 62629193 splice donor variant C/G snv 0.700 0
dbSNP: rs1565093675
rs1565093675
GANAB
1 1.000 0.120 11 62629636 missense variant G/A snv 0.700 0
dbSNP: rs1565099895
rs1565099895
GANAB
1 1.000 0.120 11 62633454 frameshift variant A/- del 0.700 0
dbSNP: rs1565116806
rs1565116806
GANAB ; INTS5
1 1.000 0.120 11 62646562 missense variant C/T snv 0.700 0
dbSNP: rs747483368
rs747483368
PKD1
3 0.925 0.240 16 2114808 missense variant G/A;C snv 8.1E-06 0.700 0
dbSNP: rs373910016
rs373910016
LRP5
3 0.882 0.120 11 68386660 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014