Gene: AQP2 ×
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: rs104894328
rs104894328
AQP2 ; LOC101927318
4 0.851 0.080 12 49954663 missense variant C/T snv 4.8E-05 4.9E-05 0.700 0
dbSNP: rs193922494
rs193922494
AQP2 ; LOC101927318
1 1.000 0.080 12 49951053 missense variant T/G snv 0.700 0
dbSNP: rs193922495
rs193922495
AQP2 ; LOC101927318
2 0.925 0.080 12 49954664 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs193922496
rs193922496
AQP2 ; LOC101927318
1 1.000 0.080 12 49955576 frameshift variant C/- delins 0.700 0
dbSNP: rs104894332
rs104894332
AQP2 ; LOC101927318
4 0.851 0.080 12 49955564 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs104894333
rs104894333
AQP2 ; LOC101927318
4 0.851 0.080 12 49954168 missense variant C/T snv 8.3E-06; 4.1E-06 2.1E-05 0.010 1.000 1 1998 1998
dbSNP: rs104894335
rs104894335
AQP2 ; LOC101927318
4 0.851 0.080 12 49954317 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs104894339
rs104894339
AQP2 ; LOC101927318
4 0.851 0.080 12 49955577 missense variant C/G;T snv 5.0E-06; 5.5E-05 0.010 1.000 1 2004 2004
dbSNP: rs139913957
rs139913957
AQP2 ; LOC101927318
2 0.925 0.080 12 49955550 missense variant G/A snv 2.2E-05 6.3E-05 0.010 1.000 1 2009 2009
dbSNP: rs770932012
rs770932012
AQP2 ; LOC101927318
2 0.925 0.080 12 49954244 missense variant T/A;C;G snv 2.0E-05; 4.1E-06 0.010 1.000 1 2009 2009