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: rs121908389
rs121908389
CYLD ; LOC105371251
2 0.925 0.120 16 50791689 missense variant A/G snv 0.800 1.000 4 2002 2005
dbSNP: rs121908390
rs121908390
CYLD ; LOC105371251
8 0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06 0.720 1.000 2 2009 2014
dbSNP: rs886040870
rs886040870
CYLD
1 1.000 0.120 16 50776221 frameshift variant CAAGAGGTGT/- delins 0.700 0
dbSNP: rs886040874
rs886040874
CYLD
1 1.000 0.120 16 50781263 frameshift variant -/T delins 0.700 0
dbSNP: rs886040875
rs886040875
CYLD
1 1.000 0.120 16 50781323 frameshift variant -/T delins 0.700 0
dbSNP: rs886040884
rs886040884
CYLD ; LOC105371251
1 1.000 0.120 16 50787852 missense variant G/A snv 0.700 0
dbSNP: rs886040885
rs886040885
CYLD ; LOC105371251
1 1.000 0.120 16 50791586 frameshift variant -/AC delins 0.700 0
dbSNP: rs879254764
rs879254764
LDLR
7 0.827 0.360 19 11110752 frameshift variant G/- delins 0.010 1.000 1 2014 2014