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: 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: 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: rs1554695251
rs1554695251
PTCH1 ; LOC100507346
1.000 0.160 9 95469116 frameshift variant C/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1554695612
rs1554695612
PTCH1 ; LOC100507346
1.000 0.160 9 95469903 frameshift variant GCA/CC delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1554697839
rs1554697839
PTCH1
1.000 0.160 9 95476041 frameshift variant AACGCCCGCAGAG/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
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: rs1554698260
rs1554698260
PTCH1
1.000 0.160 9 95476782 stop gained G/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
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: 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: 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: 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: rs1554700010
rs1554700010
PTCH1
1.000 0.160 9 95480568 stop gained C/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1554700720
rs1554700720
PTCH1
1.000 0.160 9 95482173 frameshift variant T/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1554700742
rs1554700742
PTCH1
1.000 0.160 9 95482186 frameshift variant T/- del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1554702186
rs1554702186
PTCH1
1.000 0.160 9 95485836 stop gained G/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1554708751
rs1554708751
PTCH1
1.000 0.160 9 95506511 frameshift variant T/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1554708795
rs1554708795
PTCH1
1.000 0.160 9 95506574 splice acceptor variant GGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGA/- del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
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: 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
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: rs1564032829
rs1564032829
PTCH1 ; LOC100507346
0.925 0.160 9 95468757 frameshift variant T/- 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: 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