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: 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: 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: rs1554699216
rs1554699216
PTCH1
1.000 0.160 9 95479079 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: rs1564050405
rs1564050405
PTCH1
1.000 0.160 9 95477693 frameshift variant -/ATAG 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: rs1554697928
rs1554697928
PTCH1
1.000 0.160 9 95476110 frameshift variant -/T delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 1 1997 1997
dbSNP: rs1554698258
rs1554698258
PTCH1
1.000 0.160 9 95476777 frameshift variant -/T delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1554698800
rs1554698800
PTCH1
1.000 0.160 9 95478094 frameshift variant -/T delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1554699837
rs1554699837
PTCH1
1.000 0.160 9 95480413 frameshift variant -/T delins
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: 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
dbSNP: rs1564035949
rs1564035949
PTCH1 ; LOC100507346
1.000 0.160 9 95469896 frameshift variant A/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 1 2014 2014
dbSNP: rs1554698531
rs1554698531
PTCH1
1.000 0.160 9 95477565 frameshift variant A/- 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: 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: rs1432645175
rs1432645175
PTCH1
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: 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: 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: 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: 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: 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: rs1554708760
rs1554708760
PTCH1
1.000 0.160 9 95506541 frameshift variant AA/- del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 2 1997 2006
dbSNP: rs1564031259
rs1564031259
PTCH1 ; LOC100507346
1.000 0.160 9 95467400 splice acceptor variant AAAAAGGAAGATCACCACTACCTGGAACAGAAGAGGCACAAGGTCAGACCCCAG/- delins
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