PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs878853856
rs878853856 		1.000 0.160 9 95453533 missense variant A/G snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 8 1996 2015
dbSNP: rs199476093
rs199476093 		1.000 0.120 9 95459764 missense variant A/C snv
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 3 2002 2006
dbSNP: rs1554708787
rs1554708787 		1.000 9 95506567 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1996 2016
dbSNP: rs1554708787
rs1554708787 		1.000 9 95506567 stop gained C/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 13 1996 2016
dbSNP: rs1554708787
rs1554708787 		1.000 9 95506567 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 13 1996 2016
dbSNP: rs781768965
rs781768965 		1.000 9 95508175 stop gained C/A;G snv 4.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 13 1996 2016
dbSNP: rs781768965
rs781768965 		1.000 9 95508175 stop gained C/A;G snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 13 1996 2016
dbSNP: rs781768965
rs781768965 		1.000 9 95508175 stop gained C/A;G snv 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1996 2016
dbSNP: rs587776689
rs587776689 		0.882 0.160 9 95453587 missense variant T/A;G snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 5 1996 2004
dbSNP: rs1060502268
rs1060502268 		1.000 0.160 9 95476835 missense variant C/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 4 2003 2013
dbSNP: rs1131690985
rs1131690985 		0.925 0.200 9 95449891 missense variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2000 2009
dbSNP: rs1554698582
rs1554698582 		1.000 0.160 9 95477618 inframe deletion ACCAGCAGGACGCCA/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 4 1996 2006
dbSNP: rs1060502292
rs1060502292 		1.000 0.160 9 95468803 frameshift variant AG/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 3 1997 2006
dbSNP: rs1064793921
rs1064793921 		1.000 0.160 9 95476161 splice acceptor variant T/C;G snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 3 2006 2014
dbSNP: rs1131690986
rs1131690986 		1.000 0.160 9 95485866 stop gained G/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 3 1997 2006
dbSNP: rs138911275
rs138911275 		1.000 0.120 9 95458026 missense variant G/A snv 6.5E-04 6.4E-04
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2002 2006
dbSNP: rs199476091
rs199476091 		1.000 0.120 9 95479038 missense variant C/T snv 4.2E-04 9.1E-05
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2002 2006
dbSNP: rs199476092
rs199476092 		1.000 0.120 9 95467197 missense variant T/C snv 9.9E-04 3.6E-04
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2002 2006
dbSNP: rs863224443
rs863224443 		1.000 0.160 9 95449942 splice acceptor variant T/C snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 3 2005 2006
dbSNP: rs878853845
rs878853845 		1.000 0.120 9 95478074 missense variant G/A;C snv
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2002 2006
dbSNP: rs10512248
rs10512248 		0.925 0.120 9 95497421 intron variant T/A;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2008 2015
dbSNP: rs10512248
rs10512248 		0.925 0.120 9 95497421 intron variant T/A;G snv
CUI: C0489786
Disease: Height
Height 		0.700 1.000 2 2008 2011
dbSNP: rs1060502277
rs1060502277 		1.000 0.160 9 95476758 splice donor variant C/A;T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 2 2006 2006
dbSNP: rs1131690986
rs1131690986 		1.000 0.160 9 95485866 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 1997 2008
dbSNP: rs1131690990
rs1131690990 		9 95453487 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2008 2010