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: rs606231357
rs606231357
EYA1
3 0.882 0.120 8 71271753 splice region variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1057518976
rs1057518976
PKD1
3 1.000 0.120 16 2111382 missense variant T/C snv 0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
15 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 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: rs1563406024
rs1563406024
FZD3
4 0.851 0.240 8 28555799 frameshift variant -/A delins 0.700 0
dbSNP: rs1564405163
rs1564405163
GATA3
6 0.807 0.280 10 8073746 missense variant G/C snv 0.700 0
dbSNP: rs1569234334
rs1569234334
KIF4A
5 0.851 0.200 X 70329420 missense variant G/T snv 0.700 0
dbSNP: rs770908659
rs770908659
MKKS
2 1.000 0.120 20 10412556 frameshift variant AG/- delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
dbSNP: rs121918187
rs121918187
UPK3A
1 1.000 0.120 22 45293214 missense variant G/A snv 0.010 1.000 1 2006 2006