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: rs1564051834
rs1564051834
PTCH1
1.000 0.160 9 95478187 splice acceptor variant C/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1564053040
rs1564053040
PTCH1
1.000 0.160 9 95479018 frameshift variant CCTCCAGG/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1564055259
rs1564055259
PTCH1
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: rs1564055868
rs1564055868
PTCH1
1.000 0.160 9 95480567 frameshift variant C/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1564058147
rs1564058147
PTCH1
1.000 0.160 9 95482135 frameshift variant -/G delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1564058222
rs1564058222
PTCH1
1.000 0.160 9 95482161 frameshift variant A/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1564063386
rs1564063386
PTCH1
1.000 0.160 9 95485861 frameshift variant -/A delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1564088181
rs1564088181
PTCH1
1.000 0.160 9 95506505 frameshift variant C/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs267606984
rs267606984
PTCH1
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: rs368869806
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs751977093
rs751977093
PTCH1
1.000 0.160 9 95508248 frameshift variant CCC/-;CC;CCCC delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs766313615
rs766313615
PTCH1 ; LOC100507346
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: rs767273237
rs767273237
PTCH1
1.000 0.160 9 95478080 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs778260156
rs778260156
PTCH1 ; LOC100507346
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
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: rs786204167
rs786204167
PTCH1 ; LOC100507346
1.000 0.160 9 95467181 missense variant A/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
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: rs863224444
rs863224444
PTCH1
1.000 0.160 9 95480389 splice donor variant C/T snv
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: 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: rs863224486
rs863224486
PTCH1
1.000 0.160 9 95482176 stop gained G/C snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs863224487
rs863224487
PTCH1
1.000 0.160 9 95482029 stop gained A/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs863225054
rs863225054
PTCH1
1.000 0.160 9 95477548 missense variant T/C snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs863225055
rs863225055
PTCH1
0.925 0.160 9 95476760 frameshift variant AAAAGGGATTC/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
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