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: rs193922121
rs193922121
AVPR2
1 1.000 0.080 X 153906343 frameshift variant -/T delins 0.700 0
dbSNP: rs104894749
rs104894749
AVPR2
2 0.925 0.080 X 153906120 missense variant A/G snv 0.700 0
dbSNP: rs104894752
rs104894752
AVPR2
2 0.925 0.080 X 153906345 missense variant A/G snv 0.700 0
dbSNP: rs796052096
rs796052096
AVPR2
1 1.000 0.080 X 153905894 missense variant A/T snv 0.700 0
dbSNP: rs193922115
rs193922115
AVPR2
1 1.000 0.080 X 153905977 frameshift variant C/- delins 0.700 0
dbSNP: rs193922496
rs193922496
AQP2 ; LOC101927318
1 1.000 0.080 12 49955576 frameshift variant C/- delins 0.700 0
dbSNP: rs193922123
rs193922123
AVPR2
2 0.925 0.080 X 153906575 missense variant C/A snv 5.8E-06 0.700 0
dbSNP: rs104894747
rs104894747
AVPR2
2 0.925 0.080 X 153905901 missense variant C/A;T snv 0.700 0
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: rs104894761
rs104894761
AVPR2
3 0.882 0.240 X 153905915 missense variant C/G;T snv 5.7E-06 0.700 0
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: rs782806507
rs782806507
AVPR2
2 0.925 0.080 X 153906110 missense variant C/T snv 5.5E-06 0.010 1.000 1 2000 2000
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: rs104894750
rs104894750
AVPR2
2 0.925 0.080 X 153906113 missense variant C/T snv 0.700 0
dbSNP: rs104894753
rs104894753
AVPR2
2 0.925 0.080 X 153906621 stop gained C/T snv 0.700 0
dbSNP: rs104894757
rs104894757
AVPR2
2 0.925 0.080 X 153906047 missense variant C/T snv 0.700 0
dbSNP: rs104894760
rs104894760
AVPR2
4 0.851 0.080 X 153905816 missense variant C/T snv 0.700 0
dbSNP: rs193922117
rs193922117
AVPR2
1 1.000 0.080 X 153906179 stop gained C/T snv 0.700 0
dbSNP: rs28935496
rs28935496
AVPR2
2 0.925 0.080 X 153905843 missense variant C/T snv 5.6E-06 0.700 0
dbSNP: rs1569545523
rs1569545523
AVPR2
1 1.000 0.080 X 153905608 frameshift variant G/- del 0.700 0
dbSNP: rs193922116
rs193922116
AVPR2
1 1.000 0.080 X 153906059 frameshift variant G/- delins 0.700 0
dbSNP: rs193922119
rs193922119
AVPR2
1 1.000 0.080 X 153906275 frameshift variant G/- 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: rs104894335
rs104894335
AQP2 ; LOC101927318
4 0.851 0.080 12 49954317 missense variant G/A snv 0.010 1.000 1 1998 1998
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