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: rs1165196
rs1165196
SLC17A1
5 0.882 0.200 6 25812922 missense variant G/A snv 0.62 0.66 0.010 1.000 1 2012 2012
dbSNP: rs1165215
rs1165215
SLC17A1
5 0.882 0.200 6 25798704 3 prime UTR variant G/A snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs13197601
rs13197601
SLC17A1
5 0.882 0.200 6 25785707 intron variant G/A snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs2728121
rs2728121
PKD2
4 0.882 0.200 4 88075950 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs2762353
rs2762353
SLC17A1
5 0.882 0.200 6 25794203 intron variant A/G snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs3757131
rs3757131
SLC17A1
5 0.882 0.200 6 25783681 intron variant C/T snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs3799344
rs3799344
SLC17A1
5 0.882 0.200 6 25786765 intron variant C/T snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs3799346
rs3799346
SLC17A1
4 0.882 0.200 6 25791126 intron variant C/T snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs942377
rs942377
SLC17A1
3 0.882 0.200 6 25792064 intron variant T/C snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs121918043
rs121918043
PKD2
2 0.925 0.120 4 88046854 missense variant A/T snv 0.800 1.000 13 1997 2018
dbSNP: rs1553925453
rs1553925453
PKD2
2 0.925 0.120 4 88038371 missense variant C/T snv 0.800 1.000 13 1997 2018
dbSNP: rs1060503526
rs1060503526
PKD2
2 0.925 0.120 4 88038380 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs1131692280
rs1131692280
PKD2
3 0.925 0.120 4 88043458 splice donor variant G/A snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs1135401753
rs1135401753
PKD2
1 1.000 0.120 4 88046780 stop gained C/G snv 0.700 0
dbSNP: rs121918039
rs121918039
PKD2
1 1.000 0.120 4 88043277 stop gained G/A snv 0.700 0
dbSNP: rs121918040
rs121918040
PKD2
2 0.925 0.120 4 88065479 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs121918041
rs121918041
PKD2
1 1.000 0.120 4 88043351 stop gained C/T snv 0.700 0
dbSNP: rs121918042
rs121918042
PKD2
1 1.000 0.120 4 88046712 stop gained C/T snv 0.700 0
dbSNP: rs1302726543
rs1302726543
PKD2
2 0.925 0.120 4 88019499 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs145877597
rs145877597
PKD2
1 1.000 0.120 4 88038372 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs147654263
rs147654263
PKD2
1 1.000 0.120 4 88067959 missense variant G/A snv 3.0E-03 3.1E-03 0.700 0
dbSNP: rs1553923513
rs1553923513
PKD2
1 1.000 0.120 4 88008210 frameshift variant GGCCCGCCGTGCCCCAGCCCAG/- delins 0.700 0
dbSNP: rs1553924174
rs1553924174
PKD2
1 1.000 0.120 4 88019552 frameshift variant -/C delins 0.700 0
dbSNP: rs1553925459
rs1553925459
PKD2
1 1.000 0.120 4 88038392 frameshift variant G/- delins 0.700 0
dbSNP: rs1553925467
rs1553925467
PKD2
1 1.000 0.120 4 88038494 frameshift variant G/- delins 0.700 0