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: rs104893714
rs104893714
CAV3 ; SSUH2
3 0.925 0.120 3 8745701 missense variant T/G snv 0.820 1.000 4 2006 2018
dbSNP: rs104893713
rs104893713
CAV3 ; SSUH2
1 1.000 0.120 3 8745834 missense variant C/G snv 8.0E-06 0.800 1.000 2 2006 2007
dbSNP: rs104893715
rs104893715
CAV3 ; SSUH2
1 1.000 0.120 3 8745664 missense variant G/A snv 0.800 1.000 2 2006 2007
dbSNP: rs121909282
rs121909282
CAV3 ; SSUH2
2 0.925 0.120 3 8745647 missense variant T/G snv 1.4E-05 0.800 1.000 2 2006 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 0.800 0
dbSNP: rs121909281
rs121909281
CAV3 ; SSUH2
2 0.925 0.120 3 8733916 missense variant G/A;C snv 4.3E-04 0.700 0