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: 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: 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: 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: 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: 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
dbSNP: rs1060502301
rs1060502301
1.000 0.160 9 95458029 stop gained C/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1064793922
rs1064793922
1.000 0.160 9 95482198 stop gained C/A;T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1333346461
rs1333346461
1.000 0.160 9 95485690 stop gained G/A;T snv 7.0E-06
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1344258746
rs1344258746
1.000 0.160 9 95485821 stop gained C/A;T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1356231878
rs1356231878
1.000 0.160 9 95459685 stop gained A/C;G snv 4.0E-06
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1432645175
rs1432645175
1.000 0.160 9 95479006 stop gained A/C;G snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1554692291
rs1554692291
1.000 0.160 9 95461940 stop gained G/C snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1554698260
rs1554698260
1.000 0.160 9 95476782 stop gained G/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1554700010
rs1554700010
1.000 0.160 9 95480568 stop gained C/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1554702186
rs1554702186
1.000 0.160 9 95485836 stop gained G/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1564030530
rs1564030530
1.000 0.160 9 95467161 stop gained G/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs1564055259
rs1564055259
1.000 0.160 9 95480397 stop gained G/C snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs267606984
rs267606984
1.000 0.160 9 95479122 stop gained G/A;C snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs766313615
rs766313615
1.000 0.160 9 95467368 stop gained G/A;C;T snv 8.0E-06
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0
dbSNP: rs778260156
rs778260156
1.000 0.160 9 95467285 stop gained G/A;T snv 1.2E-05
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 0