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: rs28936686
rs28936686
CAV3 ; SSUH2
4 0.851 0.200 3 8745688 missense variant G/A;T snv 1.6E-04; 2.0E-05 0.700 1.000 3 2003 2010
dbSNP: rs116840773
rs116840773
CAV3 ; SSUH2
2 0.925 0.080 3 8745548 missense variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs116840782
rs116840782
CAV3 ; SSUH2
2 0.925 0.080 3 8733960 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs116840789
rs116840789
CAV3 ; SSUH2
6 0.925 0.080 3 8745547 missense variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs199476333
rs199476333
CAV3 ; SSUH2
1 1.000 0.080 3 8745623 stop gained G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs72546668
rs72546668
CAV3 ; SSUH2
8 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.010 1.000 1 2012 2012