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: rs373952574
rs373952574
PKD1
1 1.000 0.120 16 2102629 missense variant T/C snv 1.2E-05 7.0E-06 0.700 1.000 20 1996 2009
dbSNP: rs534112936
rs534112936
PKD1
1 1.000 0.120 16 2103652 missense variant G/A snv 6.5E-05 4.9E-05 0.700 1.000 20 1996 2009
dbSNP: rs538769374
rs538769374
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106665 missense variant G/A snv 8.4E-05 2.1E-05 0.700 1.000 20 1996 2009
dbSNP: rs573566419
rs573566419
PKD1
1 1.000 0.120 16 2111671 missense variant C/T snv 6.5E-05 2.8E-05 0.700 1.000 20 1996 2009
dbSNP: rs755522953
rs755522953
PKD1
1 1.000 0.120 16 2103485 missense variant C/T snv 5.5E-05 2.1E-05 0.700 1.000 20 1996 2009
dbSNP: rs776463508
rs776463508
PKD1
1 1.000 0.120 16 2097890 missense variant G/A;C;T snv 2.8E-05; 9.7E-05; 4.1E-06 0.700 1.000 20 1996 2009
dbSNP: rs778028644
rs778028644
PKD1
1 1.000 0.120 16 2109736 missense variant C/T snv 3.3E-05 5.6E-05 0.700 1.000 20 1996 2009
dbSNP: rs781263445
rs781263445
PKD1
1 1.000 0.120 16 2097971 missense variant G/A snv 4.4E-06 1.4E-05 0.700 1.000 20 1996 2009
dbSNP: rs781492044
rs781492044
PKD1 ; LOC105371049
1 1.000 0.120 16 2093828 missense variant C/T snv 2.9E-05 3.5E-05 0.700 1.000 20 1996 2009
dbSNP: rs886038369
rs886038369
PKD1 ; MIR3180-5
1 1.000 0.120 16 2135508 missense variant G/A snv 6.3E-04 0.700 1.000 20 1996 2009
dbSNP: rs148812376
rs148812376
PKD1
3 0.882 0.120 16 2099955 missense variant G/A snv 1.7E-04 3.2E-04 0.700 1.000 3 2009 2016
dbSNP: rs1057516041
rs1057516041
PKD1 ; LOC105371049
2 0.925 0.120 16 2094127 stop gained C/A;T snv 9.4E-06 0.700 1.000 1 2016 2016
dbSNP: rs1033550407
rs1033550407
PKD1
1 1.000 0.120 16 2111442 missense variant G/A snv 2.1E-05 0.700 0
dbSNP: rs1057516202
rs1057516202
PKD1
1 1.000 0.120 16 2100027 inframe deletion GCT/- del 0.700 0
dbSNP: rs1057516206
rs1057516206
PKD1
1 1.000 0.120 16 2111624 stop gained A/T snv 0.700 0
dbSNP: rs1057518897
rs1057518897
PKD1
3 0.925 0.120 16 2103746 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1060499699
rs1060499699
PKD1
1 1.000 0.120 16 2117579 missense variant G/T snv 0.700 0
dbSNP: rs1060499702
rs1060499702
PKD1 ; MIR6511B1
1 1.000 0.120 16 2108743 frameshift variant G/- delins 0.700 0
dbSNP: rs1060499704
rs1060499704
PKD1
1 1.000 0.120 16 2100396 missense variant C/A snv 0.700 0
dbSNP: rs1060499718
rs1060499718
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090418 frameshift variant CA/- delins 0.700 0
dbSNP: rs1114167366
rs1114167366
PKD1
1 1.000 0.120 16 2097725 splice donor variant AC/- delins 0.700 0
dbSNP: rs1114167370
rs1114167370
PKD1
1 1.000 0.120 16 2118296 missense variant A/C snv 0.700 0
dbSNP: rs114251396
rs114251396
PKD1 ; TSC2 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2089813 missense variant G/A snv 3.7E-03 3.3E-03 0.700 0
dbSNP: rs115538130
rs115538130
PKD1 ; MIR1225 ; LOC105371049
1 1.000 0.120 16 2090179 missense variant G/A;T snv 9.3E-04; 4.2E-06 0.700 0
dbSNP: rs1161298621
rs1161298621
PKD1 ; MIR6511B1
1 1.000 0.120 16 2106475 missense variant G/A snv 7.0E-06 0.700 0