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: rs104894756
rs104894756
AVPR2
3 0.882 0.240 X 153905916 missense variant G/A;T snv 5.7E-06 0.720 1.000 22 1992 2016
dbSNP: rs104894748
rs104894748
AVPR2
2 0.925 0.080 X 153906059 missense variant G/T snv 0.710 1.000 21 1992 2006
dbSNP: rs104894754
rs104894754
AVPR2
2 0.925 0.080 X 153905759 missense variant G/A snv 0.710 0.952 21 1992 2006
dbSNP: rs104894755
rs104894755
AVPR2
2 0.925 0.080 X 153906108 missense variant G/A snv 0.710 0.952 21 1992 2006
dbSNP: rs104894747
rs104894747
AVPR2
2 0.925 0.080 X 153905901 missense variant C/A;T snv 0.700 1.000 20 1992 2006
dbSNP: rs104894749
rs104894749
AVPR2
2 0.925 0.080 X 153906120 missense variant A/G snv 0.700 1.000 20 1992 2006
dbSNP: rs104894750
rs104894750
AVPR2
2 0.925 0.080 X 153906113 missense variant C/T snv 0.700 1.000 20 1992 2006
dbSNP: rs104894752
rs104894752
AVPR2
2 0.925 0.080 X 153906345 missense variant A/G snv 0.700 1.000 20 1992 2006
dbSNP: rs104894757
rs104894757
AVPR2
2 0.925 0.080 X 153906047 missense variant C/T snv 0.700 1.000 20 1992 2006
dbSNP: rs104894758
rs104894758
AVPR2
2 0.925 0.080 X 153905819 missense variant T/G snv 0.700 1.000 20 1992 2006
dbSNP: rs104894759
rs104894759
AVPR2
2 0.925 0.080 X 153905643 missense variant T/A;C snv 1.7E-05 0.700 1.000 20 1992 2006
dbSNP: rs104894760
rs104894760
AVPR2
4 0.851 0.080 X 153905816 missense variant C/T snv 0.700 1.000 20 1992 2006
dbSNP: rs193922122
rs193922122
AVPR2
2 0.925 0.080 X 153906359 missense variant G/C snv 0.700 1.000 20 1992 2006
dbSNP: rs193922123
rs193922123
AVPR2
2 0.925 0.080 X 153906575 missense variant C/A snv 5.8E-06 0.700 1.000 20 1992 2006
dbSNP: rs28935496
rs28935496
AVPR2
2 0.925 0.080 X 153905843 missense variant C/T snv 5.6E-06 0.700 1.000 20 1992 2006
dbSNP: rs782806507
rs782806507
AVPR2
2 0.925 0.080 X 153906110 missense variant C/T snv 5.5E-06 0.700 1.000 20 1992 2006
dbSNP: rs1057518723
rs1057518723
AVPR2
1 1.000 0.080 X 153905841 missense variant G/T snv 0.700 0
dbSNP: rs1557100304
rs1557100304
AVPR2
1 1.000 0.080 X 153905168 frameshift variant C/- delins 0.700 0
dbSNP: rs1557100594
rs1557100594
AVPR2
3 0.925 0.080 X 153905887 inframe deletion TAC/- delins 0.700 0
dbSNP: rs1557100610
rs1557100610
AVPR2
1 1.000 0.080 X 153905910 missense variant T/C snv 0.700 0
dbSNP: rs1557100917
rs1557100917
AVPR2
1 1.000 0.080 X 153906363 missense variant C/T snv 0.700 0
dbSNP: rs193922112
rs193922112
AVPR2
2 0.925 0.080 X 153905682 missense variant T/C snv 0.700 0
dbSNP: rs886040961
rs886040961
AVPR2
2 0.925 0.120 X 153906575 frameshift variant C/- delins 0.700 0
dbSNP: rs104894332
rs104894332
AQP2 ; LOC101927318
4 0.851 0.080 12 49955564 missense variant G/A snv 0.030 0.667 3 1998 2009
dbSNP: rs104894328
rs104894328
AQP2 ; LOC101927318
4 0.851 0.080 12 49954663 missense variant C/T snv 4.8E-05 4.9E-05 0.020 1.000 2 1999 2010