Gene: CAV3 ×
Source: CLINVAR ×
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
4 0.882 0.200 3 8733956 missense variant G/A;C snv 0.700 1.000 14 2000 2011
dbSNP: rs116840795
rs116840795
CAV3 ; SSUH2
1 1.000 0.120 3 8745580 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 3 2004 2017
dbSNP: rs28936686
rs28936686
CAV3 ; SSUH2
3 0.851 0.200 3 8745688 missense variant G/A;T snv 1.6E-04; 2.0E-05 0.700 1.000 2 2003 2005
dbSNP: rs1060502318
rs1060502318
CAV3 ; SSUH2
1 1.000 0.120 3 8733882 frameshift variant GG/- del 7.0E-06 0.700 0
dbSNP: rs778914298
rs778914298
CAV3 ; SSUH2
1 1.000 0.120 3 8733883 frameshift variant GAAGAGCA/- delins 3.5E-05 0.700 0
dbSNP: rs796052171
rs796052171
CAV3 ; SSUH2
1 1.000 0.120 3 8733913 missense variant A/T snv 0.700 0