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: rs1131690972
rs1131690972
PTCH1
9 95459721 frameshift variant -/AGAT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		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: rs1131690971
rs1131690971
PTCH1
9 95481979 frameshift variant -/C delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		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: rs1131690987
rs1131690987
PTCH1
1.000 0.160 9 95480449 frameshift variant A/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		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: rs1131690976
rs1131690976
PTCH1
9 95449931 frameshift variant A/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690991
rs1131690991
PTCH1 ; LOC100507346
9 95469818 frameshift variant A/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		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: 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: rs199476093
rs199476093
PTCH1
1.000 0.120 9 95459764 missense variant A/C snv
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.800 1.000 3 2002 2006
dbSNP: rs1131690998
rs1131690998
PTCH1
0.925 0.280 9 95506484 missense variant A/C snv
CUI: C0341038
Disease: Jaw Keratocyst
Jaw Keratocyst 		0.010 < 0.001 1 2008 2008
dbSNP: rs1131690998
rs1131690998
PTCH1
0.925 0.280 9 95506484 missense variant A/C snv
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 < 0.001 1 2008 2008
dbSNP: rs4448343
rs4448343
PTCH1
9 95504088 intron variant A/C;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2014 2014
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