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: rs121908250
rs121908250
CCBE1
1 1.000 0.120 18 59480228 missense variant A/T snv 3.6E-05 7.0E-05 0.800 1.000 2 2009 2010
dbSNP: rs121908251
rs121908251
CCBE1
1 1.000 0.120 18 59469568 missense variant C/G snv 0.800 1.000 2 2009 2010
dbSNP: rs121908252
rs121908252
CCBE1
1 1.000 0.120 18 59438119 missense variant C/G snv 0.800 1.000 2 2009 2010
dbSNP: rs121908254
rs121908254
CCBE1
1 1.000 0.120 18 59466772 missense variant A/G snv 2.0E-05 0.800 1.000 2 2009 2010
dbSNP: rs121908253
rs121908253
CCBE1
1 1.000 0.120 18 59466820 missense variant G/A;C snv 2.1E-04; 4.0E-06 0.700 1.000 2 2009 2010
dbSNP: rs563023244
rs563023244
CCBE1
1 1.000 0.120 18 59448074 frameshift variant -/A ins 5.6E-05 7.0E-05 0.700 0