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: rs116840778
rs116840778
CAV3 ; SSUH2
7 0.882 0.200 3 8733956 missense variant G/A;C snv 0.800 1.000 14 2000 2011
dbSNP: rs116840805
rs116840805
CAV3 ; SSUH2
6 0.827 0.160 3 8745725 missense variant C/T snv 0.800 1.000 12 1998 2006
dbSNP: rs116840773
rs116840773
CAV3 ; SSUH2
2 0.925 0.080 3 8745548 missense variant C/A;T snv 0.800 0
dbSNP: rs116840782
rs116840782
CAV3 ; SSUH2
2 0.925 0.080 3 8733960 missense variant C/A snv 0.800 0
dbSNP: rs116840789
rs116840789
CAV3 ; SSUH2
6 0.925 0.080 3 8745547 missense variant G/A;T snv 0.800 0
dbSNP: rs199476332
rs199476332
CAV3 ; SSUH2
2 0.925 0.120 3 8745601 missense variant A/C snv 0.700 1.000 12 1998 2006
dbSNP: rs199476325
rs199476325
CAV3 ; SSUH2
1 1.000 0.080 3 8733976 missense variant G/A snv 1.6E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs1008642
rs1008642
CAV3 ; SSUH2
3 0.882 0.120 3 8733975 missense variant C/A;G;T snv 0.29 0.700 0
dbSNP: rs116840788
rs116840788
CAV3 ; SSUH2
2 0.925 0.120 3 8745542 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs116840793
rs116840793
CAV3 ; SSUH2
1 1.000 0.080 3 8745550 missense variant G/A snv 0.700 0
dbSNP: rs116840794
rs116840794
CAV3 ; SSUH2
1 1.000 0.080 3 8745568 missense variant A/G snv 0.700 0
dbSNP: rs199476331
rs199476331
CAV3 ; SSUH2
1 1.000 0.080 3 8745597 inframe deletion CACCTTCAC/- delins 0.700 0
dbSNP: rs28936685
rs28936685
CAV3 ; SSUH2
1 1.000 0.080 3 8745671 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.700 0
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 0