Gene: PKD1 ×
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: rs45507199
rs45507199
PKD1 ; TSC2
3 0.925 0.120 16 2088294 missense variant G/A;C;T snv 0.700 1.000 9 1998 2016
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
3 0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins 0.700 0
dbSNP: rs45517423
rs45517423
PKD1 ; TSC2
1 1.000 0.120 16 2088569 missense variant C/T snv 1.5E-03 1.5E-03 0.010 1.000 1 2008 2008