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 0.800 1.000 13 1998 2017
dbSNP: rs45517418
rs45517418
PKD1 ; TSC2
1 1.000 0.120 16 2088504 missense variant A/C;G snv 8.0E-06 0.700 1.000 20 1996 2017
dbSNP: rs777166275
rs777166275
PKD1 ; TSC2
1 1.000 0.120 16 2088533 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.700 1.000 20 1996 2017
dbSNP: rs45459299
rs45459299
PKD1 ; TSC2
1 1.000 0.120 16 2088314 missense variant C/T snv 4.0E-06 0.700 1.000 16 1996 2005
dbSNP: rs45517413
rs45517413
PKD1 ; TSC2
1 1.000 0.120 16 2088297 missense variant T/C snv 0.700 1.000 16 1996 2005
dbSNP: rs45517412
rs45517412
PKD1 ; TSC2
4 0.882 0.200 16 2088293 missense variant C/G;T snv 0.700 1.000 11 1998 2016
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
3 0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins 0.700 1.000 6 1998 2013
dbSNP: rs1064792923
rs1064792923
PKD1 ; TSC2
1 1.000 0.120 16 2088461 frameshift variant TCCAACCCCAGCCTAC/- delins 0.700 1.000 5 1997 2015
dbSNP: rs45517411
rs45517411
PKD1 ; TSC2
1 1.000 0.120 16 2088286 stop gained G/A;T snv 0.700 1.000 5 1997 2015
dbSNP: rs137854397
rs137854397
PKD1 ; TSC2
1 1.000 0.120 16 2088312 splice donor variant GCCAGCGGGTAGGGAATATGGGGCTCC/- delins 0.700 1.000 3 2001 2014
dbSNP: rs137854317
rs137854317
PKD1 ; TSC2
1 1.000 0.120 16 2088324 splice donor variant G/- delins 0.700 1.000 2 1999 2007
dbSNP: rs1567135103
rs1567135103
PKD1 ; TSC2
1 1.000 0.120 16 2088579 stop lost CCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA/- del 0.700 1.000 1 2015 2015
dbSNP: rs45472701
rs45472701
PKD1 ; TSC2
1 1.000 0.120 16 2088236 stop gained C/A;T snv 0.700 1.000 1 1998 1998
dbSNP: rs1060499676
rs1060499676
PKD1 ; TSC2
1 1.000 0.120 16 2088234 stop gained C/G snv 0.700 0
dbSNP: rs137854251
rs137854251
PKD1 ; TSC2
1 1.000 0.120 16 2088227 frameshift variant A/- del 0.700 0
dbSNP: rs45517404
rs45517404
PKD1 ; TSC2
1 1.000 0.120 16 2088226 splice acceptor variant G/A;C;T snv 0.700 0
dbSNP: rs878854118
rs878854118
PKD1 ; TSC2
1 1.000 0.120 16 2088452 frameshift variant G/- del 0.700 0