DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 14; N. variants: 93
Source: CURATED ×
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: rs143312232
rs143312232 		1.000 0.080 11 71441392 missense variant G/A;C snv 4.0E-06; 9.6E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 22 1998 2017
dbSNP: rs138659167
rs138659167 		0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03
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 21 1998 2015
dbSNP: rs80338856
rs80338856 		1.000 0.080 11 71438986 missense variant G/A snv 9.9E-05 1.2E-04
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 21 1998 2016
dbSNP: rs80338862
rs80338862 		1.000 0.080 11 71435575 missense variant C/G;T snv 7.3E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 21 1998 2015
dbSNP: rs751604696
rs751604696 		1.000 0.080 11 71435466 missense variant C/T snv 1.2E-05; 2.4E-05 2.1E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 18 1998 2017
dbSNP: rs104886035
rs104886035 		1.000 0.080 11 71444163 missense variant G/A snv 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 0.800 1.000 16 1998 2015
dbSNP: rs1331331095
rs1331331095 		0.925 0.080 11 71435394 missense variant A/C;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1994 2013
dbSNP: rs1331331095
rs1331331095 		0.925 0.080 11 71435394 missense variant A/C;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 16 1994 2013
dbSNP: rs138659167
rs138659167 		0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 16 1994 2013
dbSNP: rs138659167
rs138659167 		0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 16 1994 2013
dbSNP: rs121912195
rs121912195 		1.000 0.080 11 71442349 missense variant A/G snv 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 0.800 1.000 15 1998 2015
dbSNP: rs373306653
rs373306653 		1.000 0.080 11 71435665 missense variant A/G snv 1.2E-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 0.800 1.000 15 1998 2015
dbSNP: rs80338857
rs80338857 		1.000 0.080 11 71438985 missense variant C/T snv 2.0E-05 3.5E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 15 1998 2015
dbSNP: rs80338859
rs80338859 		1.000 0.080 11 71435827 missense variant C/A snv 1.7E-05 4.9E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.850 1.000 15 1998 2017
dbSNP: rs80338860
rs80338860 		1.000 0.080 11 71435749 missense variant G/A snv 1.2E-05 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 0.810 1.000 15 1998 2015
dbSNP: rs121909768
rs121909768 		1.000 0.080 11 71435748 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 14 1998 2015
dbSNP: rs80338853
rs80338853 		1.000 0.080 11 71444036 missense variant G/A snv 4.0E-05 9.1E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.840 1.000 14 1998 2015
dbSNP: rs80338855
rs80338855 		1.000 0.080 11 71441347 missense variant G/A;C snv 4.8E-05; 4.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 14 1998 2015
dbSNP: rs80338864
rs80338864 		1.000 0.080 11 71435461 missense variant C/G;T snv 1.2E-05; 3.6E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 14 1998 2015
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: rs535561852
rs535561852 		1.000 0.080 11 71435476 missense variant G/A snv 1.2E-05 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 0.800 1.000 13 1998 2015
dbSNP: rs61757582
rs61757582 		1.000 0.080 11 71435593 missense variant G/A;C;T snv 3.7E-05; 4.1E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 13 1998 2015
dbSNP: rs777425801
rs777425801 		1.000 0.080 11 71441413 missense variant C/T snv 8.8E-05 9.1E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 13 1998 2015
dbSNP: rs104886041
rs104886041 		1.000 0.080 11 71444018 missense variant A/G snv 4.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 12 1998 2015
dbSNP: rs104894212
rs104894212 		1.000 0.080 11 71438966 missense variant C/A snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 10 1998 2015