PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: HOLOPROSENCEPHALY 7 ×
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: 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: 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: 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: rs115556836
rs115556836 		1.000 0.120 9 95468818 missense variant G/A snv 1.6E-03 6.6E-03
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554691658
rs1554691658 		0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0