DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 14; N. variants: 93
Disease: Smith-Lemli-Opitz Syndrome ×
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: 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: rs1354718634
rs1354718634 		1.000 0.080 11 71435526 missense variant T/G 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 0.700 1.000 10 1998 2015
dbSNP: rs1555146061
rs1555146061 		1.000 0.080 11 71439006 missense variant A/G snv
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 10 1998 2015
dbSNP: rs1555146475
rs1555146475 		1.000 0.080 11 71441420 missense variant T/G snv
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 10 1998 2015
dbSNP: rs542266962
rs542266962 		1.000 0.080 11 71435454 missense variant C/A;T snv 8.0E-06; 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 0.700 1.000 10 1998 2015
dbSNP: rs104886038
rs104886038 		1.000 0.080 11 71444111 missense variant A/G snv
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: rs121909767
rs121909767 		1.000 0.080 11 71444950 start lost C/T snv 4.0E-06 2.8E-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 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: rs104886033
rs104886033 		0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 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 0.700 1.000 7 1998 2014
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: rs80338858
rs80338858 		1.000 0.080 11 71437869 missense variant G/A;C snv 1.2E-04; 2.0E-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 5 2000 2012
dbSNP: rs759720450
rs759720450 		1.000 0.080 11 71435746 frameshift variant C/- delins 4.0E-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 4 2000 2012
dbSNP: rs766495775
rs766495775 		1.000 0.080 11 71437914 missense variant G/A;T snv 2.0E-05; 1.2E-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 4 2000 2013
dbSNP: rs200334114
rs200334114 		1.000 0.080 11 71444864 missense variant C/G;T snv 6.4E-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 3 2007 2012
dbSNP: rs201270451
rs201270451 		1.000 0.080 11 71435419 missense variant A/G snv
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 3 2000 2014
dbSNP: rs746482788
rs746482788 		1.000 0.080 11 71442258 splice donor variant TACCTGCAGGAGTCACGGCCCCCTCCTGGATGC/- delins 4.4E-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 0.700 1.000 3 1998 2005
dbSNP: rs760428437
rs760428437 		1.000 0.080 11 71435407 missense variant C/T 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 0.700 1.000 3 2006 2014
dbSNP: rs775034584
rs775034584 		1.000 0.080 11 71435377 stop lost A/G;T snv 1.6E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1999 2012
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: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516375
rs1057516375 		1.000 0.080 11 71435822 stop gained G/T snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516493
rs1057516493 		1.000 0.080 11 71435604 stop gained C/A;T snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516517
rs1057516517 		1.000 0.080 11 71435722 frameshift variant CA/- delins
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516610
rs1057516610 		1.000 0.080 11 71435812 stop gained G/A;C snv 4.2E-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 0