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 0.143 9 95453533 missense variant A/G snp
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.800 2 2001 2017
dbSNP: rs368869806
rs368869806
1.000 0.143 9 95485875 splice acceptor variant C/T snp 4.0E-06
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 5 2006 2017
dbSNP: rs1060502292
rs1060502292
1.000 0.143 9 95468803 frameshift variant TGA/T in-del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 4 1997 2017
dbSNP: rs1064793921
rs1064793921
1.000 0.143 9 95476161 splice acceptor variant T/C snp
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 4 2006 2017
dbSNP: rs878853852
rs878853852
1.000 0.143 9 95462000 splice acceptor variant T/A snp
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 3 2006 2017
dbSNP: rs199476090
rs199476090
1.000 0.143 9 95479134 stop gained G/A snp
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 2 1996 2017
dbSNP: rs1057520590
rs1057520590
1.000 0.143 9 95482204 splice acceptor variant C/G snp
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1060502264
rs1060502264
1.000 0.143 9 95449930 frameshift variant GC/G in-del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1060502271
rs1060502271
1.000 0.143 9 95479149 splice acceptor variant T/A snp
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1060502273
rs1060502273
1.000 0.143 9 95453562 frameshift variant CAT/C in-del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1060502274
rs1060502274
1.000 0.143 9 95469119 stop gained G/A snp
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1060502277
rs1060502277
1.000 0.143 9 95476758 splice donor variant C/A snp
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1060502278
rs1060502278
1.000 0.143 9 95458207 stop gained C/A snp
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1060502280
rs1060502280
1.000 0.143 9 95485814 frameshift variant CAT/C in-del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1060502281
rs1060502281
1.000 0.143 9 95481954 stop gained G/T snp
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1060502285
rs1060502285
1.000 0.143 9 95456414 splice acceptor variant C/T snp
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1060502286
rs1060502286
1.000 0.143 9 95479006 frameshift variant CAT/C in-del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1060502287
rs1060502287
1.000 0.143 9 95481987 stop gained C/T snp
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1060502294
rs1060502294
1.000 0.143 9 95467333 frameshift variant T/TA in-del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1060502295
rs1060502295
1.000 0.143 9 95478094 frameshift variant CG/C in-del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1060502297
rs1060502297
1.000 0.143 9 95479060 frameshift variant TG/T in-del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1060502298
rs1060502298
1.000 0.143 9 95458178 stop gained A/T snp
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1060502301
rs1060502301
1.000 0.143 9 95458029 stop gained C/T snp
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1064793922
rs1064793922
1.000 0.143 9 95482198 stop gained C/A,T snp
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017
dbSNP: rs1131690969
rs1131690969
1.000 0.143 9 95480525 frameshift variant TTTTC/T in-del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
0.700 1 2017 2017