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: 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: rs1249050389
rs1249050389
PTCH1
0.925 0.240 9 95485696 stop gained G/C snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.010 1.000 1 2018 2018
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: rs1554708753
rs1554708753
PTCH1
1.000 0.160 9 95506522 frameshift variant G/- del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 1 2001 2001
dbSNP: rs1554708771
rs1554708771
PTCH1
1.000 0.160 9 95506546 frameshift variant CT/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 1 2005 2005
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: rs1564050178
rs1564050178
PTCH1
1.000 0.160 9 95477631 frameshift variant AGCC/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 1 2006 2006
dbSNP: rs1564051237
rs1564051237
PTCH1
1.000 0.160 9 95478057 frameshift variant GAGT/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs1564055606
rs1564055606
PTCH1
1.000 0.160 9 95480462 stop gained G/C snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs1564055612
rs1564055612
PTCH1
1.000 0.160 9 95480462 frameshift variant G/- del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs199476090
rs199476090
PTCH1
1.000 0.160 9 95479134 stop gained G/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 1 1996 1996
dbSNP: rs776154605
rs776154605
PTCH1
1.000 0.160 9 95476058 frameshift variant G/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 1 2006 2006
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: 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: 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: 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