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: 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: 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: 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: rs104886033
rs104886033 		0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C4025158
Disease: Rudimentary postaxial polydactyly of hands
Rudimentary postaxial polydactyly of hands 		0.700 0
dbSNP: rs104886033
rs104886033 		0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C0432040
Disease: Simple syndactyly of toes, first web space
Simple syndactyly of toes, first web space 		0.700 0
dbSNP: rs104886033
rs104886033 		0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs104886033
rs104886033 		0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		Musculoskeletal Diseases 0.700 0
dbSNP: rs104886033
rs104886033 		0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.700 0
dbSNP: rs104886033
rs104886033 		0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs104886033
rs104886033 		0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C1840069
Disease: Sandal gap
Sandal gap 		0.700 0
dbSNP: rs104886033
rs104886033 		0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		Musculoskeletal Diseases 0.700 0
dbSNP: rs104886033
rs104886033 		0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C1844605
Disease: Periorbital wrinkles
Periorbital wrinkles 		0.700 0
dbSNP: rs786200926
rs786200926 		1.000 0.080 11 71442260 splice region variant T/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 0.700 0
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: 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: 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: rs1057517210
rs1057517210 		1.000 0.080 11 71439084 splice acceptor variant 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: rs1057517307
rs1057517307 		1.000 0.080 11 71441441 splice acceptor variant 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 0.700 0
dbSNP: rs138659167
rs138659167 		0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs138659167
rs138659167 		0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs138659167
rs138659167 		0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs138659167
rs138659167 		0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03
CUI: C1836047
Disease: Long face
Long face 		0.700 0
dbSNP: rs138659167
rs138659167 		0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03
CUI: C1854114
Disease: Short nose
Short nose 		0.700 0
dbSNP: rs138659167
rs138659167 		0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03
CUI: C1849537
Disease: Persistent open anterior fontanelle
Persistent open anterior fontanelle 		0.700 0
dbSNP: rs138659167
rs138659167 		0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		0.700 0