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: rs4961
rs4961
ADD1
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.020 1.000 2 2003 2003
dbSNP: rs5370
rs5370
EDN1
37 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 0.010 1.000 1 2006 2006
dbSNP: rs58598099
rs58598099
PKD1
3 0.882 0.200 16 2116917 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.030 1.000 3 1997 2003
dbSNP: rs746231889
rs746231889
PRKCSH
1 1.000 0.120 19 11447152 missense variant C/A;G;T snv 4.0E-06; 1.9E-04 0.010 < 0.001 1 2005 2005
dbSNP: rs749004212
rs749004212
PKD2
1 1.000 0.120 4 88038365 stop gained C/T snv 4.0E-06 1.4E-05 0.700 1.000 7 1999 2016
dbSNP: rs750723025
rs750723025
GANAB ; INTS5
1 1.000 0.120 11 62646584 inframe deletion TACCGC/- delins 7.0E-06 0.700 0
dbSNP: rs754868200
rs754868200
PKD2
2 0.925 0.200 4 88052022 missense variant A/G snv 1.6E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs778235410
rs778235410
PKD2
2 0.925 0.120 4 88067946 stop gained C/G;T snv 2.4E-05; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs886041114
rs886041114
PKD2
2 1.000 0.120 4 88046642 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2011 2011