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: rs1554689667
rs1554689667
PTCH1
1.000 0.160 9 95449847 frameshift variant ATAT/GGA 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: rs1564009755
rs1564009755
PTCH1
1.000 0.160 9 95449902 frameshift variant C/- delins
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: rs863224443
rs863224443
PTCH1
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: rs863224442
rs863224442
PTCH1
1.000 0.160 9 95453477 splice donor variant C/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1554690411
rs1554690411
PTCH1
1.000 0.160 9 95453498 frameshift variant GA/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs878853856
rs878853856
PTCH1
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: 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: rs587776689
rs587776689
PTCH1
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: 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: rs786204056
rs786204056
PTCH1
1.000 0.160 9 95458011 splice donor variant A/G 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: rs1554691354
rs1554691354
PTCH1
1.000 0.160 9 95458055 frameshift variant -/A delins
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: 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: rs1554691423
rs1554691423
PTCH1
1.000 0.160 9 95458249 frameshift variant -/TCTAC ins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs863224485
rs863224485
PTCH1
1.000 0.160 9 95459638 frameshift variant GGACCCAT/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1356231878
rs1356231878
PTCH1
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: rs863224484
rs863224484
PTCH1
1.000 0.160 9 95459688 frameshift variant C/- del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1554692266
rs1554692266
PTCH1 ; LOC100507346
1.000 0.160 9 95461920 frameshift variant C/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1554692291
rs1554692291
PTCH1 ; LOC100507346
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: rs878853852
rs878853852
PTCH1 ; LOC100507346
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: rs863225467
rs863225467
PTCH1 ; LOC100507346
1.000 0.160 9 95467134 frameshift variant AGTA/CT delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1564030530
rs1564030530
PTCH1 ; LOC100507346
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