Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs878853856
rs878853856
1.000 0.160 9 95453533 missense variant A/G snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.800 1.000 8 1996 2015
dbSNP: rs587776689
rs587776689
0.882 0.160 9 95453587 missense variant T/A;G snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1.000 5 1996 2004
dbSNP: rs1060502268
rs1060502268
1.000 0.160 9 95476835 missense variant C/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1.000 4 2003 2013
dbSNP: rs1064793921
rs1064793921
1.000 0.160 9 95476161 splice acceptor variant T/C;G snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1.000 3 2006 2014
dbSNP: rs1131690986
rs1131690986
1.000 0.160 9 95485866 stop gained G/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1.000 3 1997 2006
dbSNP: rs863224443
rs863224443
1.000 0.160 9 95449942 splice acceptor variant T/C snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1.000 3 2005 2006
dbSNP: rs1060502277
rs1060502277
1.000 0.160 9 95476758 splice donor variant C/A;T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1.000 2 2006 2006
dbSNP: rs1554695039
rs1554695039
1.000 0.160 9 95468939 stop gained G/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1.000 2 1997 2012
dbSNP: rs878853849
rs878853849
1.000 0.160 9 95506601 splice acceptor variant T/C;G snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1.000 2 2006 2006
dbSNP: rs878853852
rs878853852
1.000 0.160 9 95462000 splice acceptor variant T/A;C snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1.000 2 2006 2006
dbSNP: rs1131690985
rs1131690985
0.925 0.200 9 95449891 missense variant C/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.010 1.000 1 2000 2000
dbSNP: rs1249050389
rs1249050389
0.925 0.240 9 95485696 stop gained G/C snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.010 1.000 1 2018 2018
dbSNP: rs1564055606
rs1564055606
1.000 0.160 9 95480462 stop gained G/C snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1.000 1 2013 2013
dbSNP: rs199476090
rs199476090
1.000 0.160 9 95479134 stop gained G/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1.000 1 1996 1996
dbSNP: rs755103500
rs755103500
0.851 0.160 9 95516820 start lost T/C;G snv 8.4E-06; 4.2E-06
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.010 1.000 1 2009 2009
dbSNP: rs766905791
rs766905791
0.851 0.160 9 95485815 start lost T/C snv 1.2E-05
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.010 1.000 1 2009 2009
dbSNP: rs773304123
rs773304123
1.000 0.160 9 95467363 synonymous variant C/T snv 1.2E-05
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.010 1.000 1 2008 2008
dbSNP: rs1057520590
rs1057520590
1.000 0.160 9 95482204 splice acceptor variant C/G snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1060502271
rs1060502271
1.000 0.160 9 95479149 splice acceptor variant T/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1060502274
rs1060502274
1.000 0.160 9 95469119 stop gained G/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1060502278
rs1060502278
1.000 0.160 9 95458207 stop gained C/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1060502281
rs1060502281
1.000 0.160 9 95481954 stop gained G/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1060502285
rs1060502285
1.000 0.160 9 95456414 splice acceptor variant C/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1060502287
rs1060502287
1.000 0.160 9 95481987 stop gained C/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1060502298
rs1060502298
1.000 0.160 9 95458178 stop gained A/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0