Source: ALL

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: rs1057520590
rs1057520590
PTCH1
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: rs1060502264
rs1060502264
PTCH1
1.000 0.160 9 95449930 frameshift variant C/- del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1060502268
rs1060502268
PTCH1
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: rs1060502271
rs1060502271
PTCH1
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: rs1060502273
rs1060502273
PTCH1
1.000 0.160 9 95453562 frameshift variant AT/- del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1060502274
rs1060502274
PTCH1 ; LOC100507346
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: rs1060502277
rs1060502277
PTCH1
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: rs1060502278
rs1060502278
PTCH1
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: rs1060502280
rs1060502280
PTCH1
1.000 0.160 9 95485814 frameshift variant TA/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1060502281
rs1060502281
PTCH1
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
PTCH1
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: rs1060502286
rs1060502286
PTCH1
1.000 0.160 9 95479006 frameshift variant AT/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1060502287
rs1060502287
PTCH1
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: rs1060502292
rs1060502292
PTCH1 ; LOC100507346
1.000 0.160 9 95468803 frameshift variant AG/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 3 1997 2006
dbSNP: rs1060502294
rs1060502294
PTCH1 ; LOC100507346
1.000 0.160 9 95467333 frameshift variant -/A delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1060502295
rs1060502295
PTCH1
1.000 0.160 9 95478094 frameshift variant G/- del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1060502297
rs1060502297
PTCH1
1.000 0.160 9 95479060 frameshift variant G/- del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1060502298
rs1060502298
PTCH1
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
PTCH1
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: rs1064793921
rs1064793921
PTCH1
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: rs1064793922
rs1064793922
PTCH1
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: rs1131690969
rs1131690969
PTCH1
1.000 0.160 9 95480525 frameshift variant CTTT/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1131690985
rs1131690985
PTCH1
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: rs1131690986
rs1131690986
PTCH1
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: rs1131690987
rs1131690987
PTCH1
1.000 0.160 9 95480449 frameshift variant A/- del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 1 1998 1998