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: rs104894338
rs104894338
AQP2 ; LOC101927318
3 0.882 0.080 12 49951129 missense variant G/T snv 4.1E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs104894753
rs104894753
AVPR2
2 0.925 0.080 X 153906621 stop gained C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1051744
rs1051744
AVP
1 1.000 0.080 20 3082769 missense variant C/A snv 0.010 1.000 1 2002 2002
dbSNP: rs1387073795
rs1387073795
AQP2 ; LOC101927318
1 1.000 0.080 12 49955552 missense variant C/T snv 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs1390699295
rs1390699295
AVP
1 1.000 0.080 20 3083072 missense variant T/G snv 5.6E-06 0.010 1.000 1 2002 2002
dbSNP: rs199422215
rs199422215
AQP2 ; LOC101927318
1 1.000 0.080 12 49955439 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs28931580
rs28931580
AQP2
3 0.882 0.080 12 49951000 missense variant A/C snv 2.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs781478659
rs781478659
AQP2 ; LOC101927318
1 1.000 0.080 12 49951083 stop gained C/T snv 4.0E-06 0.010 1.000 1 2008 2008