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
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
dbSNP: rs104894330
rs104894330
3 0.882 0.080 12 49954171 missense variant C/A;T snv 4.1E-06; 2.5E-05 0.020 1.000 2 2001 2004
dbSNP: rs104894332
rs104894332
4 0.851 0.080 12 49955564 missense variant G/A snv 0.030 0.667 3 1998 2009
dbSNP: rs104894333
rs104894333
4 0.851 0.080 12 49954168 missense variant C/T snv 8.3E-06; 4.1E-06 2.1E-05 0.020 1.000 2 2002 2019
dbSNP: rs104894334
rs104894334
4 0.851 0.200 12 49954233 missense variant G/A snv 5.3E-05 7.7E-05 0.010 1.000 1 2000 2000
dbSNP: rs104894335
rs104894335
4 0.851 0.080 12 49954317 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs104894339
rs104894339
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: rs104894747
rs104894747
2 0.925 0.080 X 153905901 missense variant C/A;T snv 0.700 1.000 20 1992 2006
dbSNP: rs104894748
rs104894748
2 0.925 0.080 X 153906059 missense variant G/T snv 0.710 1.000 21 1992 2006
dbSNP: rs104894749
rs104894749
2 0.925 0.080 X 153906120 missense variant A/G snv 0.700 1.000 20 1992 2006
dbSNP: rs104894750
rs104894750
2 0.925 0.080 X 153906113 missense variant C/T snv 0.700 1.000 20 1992 2006
dbSNP: rs104894751
rs104894751
2 0.925 0.080 X 153905719 stop gained G/A snv 0.010 1.000 1 1994 1994
dbSNP: rs104894752
rs104894752
2 0.925 0.080 X 153906345 missense variant A/G snv 0.700 1.000 20 1992 2006
dbSNP: rs104894754
rs104894754
2 0.925 0.080 X 153905759 missense variant G/A snv 0.710 0.952 21 1992 2006
dbSNP: rs104894755
rs104894755
2 0.925 0.080 X 153906108 missense variant G/A snv 0.710 0.952 21 1992 2006
dbSNP: rs104894756
rs104894756
3 0.882 0.240 X 153905916 missense variant G/A;T snv 5.7E-06 0.720 1.000 22 1992 2016
dbSNP: rs104894757
rs104894757
2 0.925 0.080 X 153906047 missense variant C/T snv 0.700 1.000 20 1992 2006
dbSNP: rs104894758
rs104894758
2 0.925 0.080 X 153905819 missense variant T/G snv 0.700 1.000 20 1992 2006
dbSNP: rs104894759
rs104894759
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
4 0.851 0.080 X 153905816 missense variant C/T snv 0.700 1.000 20 1992 2006
dbSNP: rs1049648051
rs1049648051
AVP
1 1.000 0.080 20 3082758 missense variant G/A;T snv 0.010 1.000 1 2001 2001
dbSNP: rs1056328377
rs1056328377
1 1.000 0.080 7 30791273 missense variant G/A snv 4.0E-06 1.4E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs1057518723
rs1057518723
1 1.000 0.080 X 153905841 missense variant G/T snv 0.700 0
dbSNP: rs1218686921
rs1218686921
2 0.925 0.080 8 26864152 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs139913957
rs139913957
2 0.925 0.080 12 49955550 missense variant G/A snv 2.2E-05 6.3E-05 0.010 < 0.001 1 2009 2009