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: rs1555446330
rs1555446330
PKD1 ; LOC105371049
1 1.000 0.120 16 2092491 missense variant C/T snv 0.700 0
dbSNP: rs1167476946
rs1167476946
PKD1 ; LOC105371049
1 1.000 0.120 16 2092492 missense variant G/A snv 0.700 0
dbSNP: rs1327414405
rs1327414405
PKD1 ; LOC105371049
1 1.000 0.120 16 2092500 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1555446576
rs1555446576
PKD1 ; LOC105371049
1 1.000 0.120 16 2092954 missense variant C/T snv 0.800 1.000 20 1996 2009
dbSNP: rs1555446582
rs1555446582
PKD1 ; LOC105371049
1 1.000 0.120 16 2092972 frameshift variant -/C delins 0.700 0
dbSNP: rs745912756
rs745912756
PKD1 ; LOC105371049
1 1.000 0.120 16 2093032 stop gained G/A;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1555446637
rs1555446637
PKD1 ; LOC105371049
1 1.000 0.120 16 2093077 frameshift variant A/- del 0.700 0
dbSNP: rs1416373452
rs1416373452
PKD1 ; LOC105371049
1 1.000 0.120 16 2093664 missense variant C/G snv 4.2E-06 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: rs777460677
rs777460677
PKD1 ; LOC105371049
2 0.925 0.120 16 2093917 inframe insertion AGCCAC/-;AGCCACAGCCAC delins 0.700 0
dbSNP: rs79000340
rs79000340
PKD1 ; LOC105371049
1 1.000 0.120 16 2093954 missense variant C/A;G;T snv 9.8E-06; 4.9E-06; 2.2E-03 0.700 0
dbSNP: rs1555447057
rs1555447057
PKD1 ; LOC105371049
1 1.000 0.120 16 2093973 frameshift variant C/- delins 0.700 0
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: rs1555447196
rs1555447196
PKD1 ; LOC105371049
1 1.000 0.120 16 2094149 frameshift variant -/C delins 0.700 0
dbSNP: rs141946034
rs141946034
PKD1 ; LOC105371049
1 1.000 0.120 16 2094179 missense variant G/C snv 1.3E-03 7.6E-04 0.700 1.000 20 1996 2009
dbSNP: rs1555448106
rs1555448106
PKD1
2 1.000 0.120 16 2097160 frameshift variant A/- del 0.700 0
dbSNP: rs780009030
rs780009030
PKD1
2 1.000 0.120 16 2097376 stop gained C/A;T snv 4.1E-06 1.4E-05 0.700 0
dbSNP: rs1114167366
rs1114167366
PKD1
1 1.000 0.120 16 2097725 splice donor variant AC/- delins 0.700 0
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: rs371283948
rs371283948
PKD1
1 1.000 0.120 16 2097912 missense variant C/T snv 8.1E-05 5.6E-05 0.700 1.000 20 1996 2009
dbSNP: rs1567165997
rs1567165997
PKD1
1 1.000 0.120 16 2097942 frameshift variant -/C delins 0.700 0
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: rs1420757773
rs1420757773
PKD1
1 1.000 0.120 16 2099917 stop gained G/A;T snv 6.0E-06 0.700 0
dbSNP: rs201780393
rs201780393
PKD1
1 1.000 0.120 16 2099931 missense variant C/T snv 1.8E-05 2.8E-05 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