DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 266; N. variants: 96
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: rs1790349
rs1790349 		0.882 0.040 11 71431304 intron variant T/C snv 0.19
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1790349
rs1790349 		0.882 0.040 11 71431304 intron variant T/C snv 0.19
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1790349
rs1790349 		0.882 0.040 11 71431304 intron variant T/C snv 0.19
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1790349
rs1790349 		0.882 0.040 11 71431304 intron variant T/C snv 0.19
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11555217
rs11555217 		0.882 0.160 11 71441401 stop gained C/G;T snv 7.7E-04
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.750 1.000 13 1998 2012
dbSNP: rs536394774
rs536394774 		1.000 0.080 11 71441308 stop gained C/A;T snv 4.0E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 9 1998 2015
dbSNP: rs104886039
rs104886039 		1.000 0.080 11 71444022 stop gained G/A snv 3.6E-05 1.4E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 2005 2017
dbSNP: rs104894213
rs104894213 		1.000 0.080 11 71441400 stop gained C/T snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.750 1.000 5 2000 2010
dbSNP: rs749076525
rs749076525 		1.000 0.080 11 71439059 stop gained G/T snv 8.0E-06 7.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2000 2012
dbSNP: rs750345068
rs750345068 		1.000 0.080 11 71444203 stop gained C/A;T snv 1.9E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2000 2006
dbSNP: rs1032242817
rs1032242817 		0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs1032242817
rs1032242817 		0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
Partial or complete agenesis of corpus callosum 		0.700 0
dbSNP: rs1032242817
rs1032242817 		0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1844731
Disease: Hypoplastic nasal tip
Hypoplastic nasal tip 		0.700 0
dbSNP: rs1032242817
rs1032242817 		0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.700 0
dbSNP: rs1032242817
rs1032242817 		0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.700 0
dbSNP: rs1032242817
rs1032242817 		0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1849537
Disease: Persistent open anterior fontanelle
Persistent open anterior fontanelle 		0.700 0
dbSNP: rs1032242817
rs1032242817 		0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1854114
Disease: Short nose
Short nose 		0.700 0
dbSNP: rs1032242817
rs1032242817 		0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1032242817
rs1032242817 		0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1032242817
rs1032242817 		0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		0.700 0
dbSNP: rs1032242817
rs1032242817 		0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1032242817
rs1032242817 		0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0239676
Disease: High forehead
High forehead 		0.700 0
dbSNP: rs1032242817
rs1032242817 		0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1836047
Disease: Long face
Long face 		0.700 0
dbSNP: rs1032242817
rs1032242817 		0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1032242817
rs1032242817 		0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1844573
Disease: Large earlobe
Large earlobe 		0.700 0