STAR, steroidogenic acute regulatory protein, 6770

N. diseases: 177; N. variants: 39
Disease: Lipoid congenital adrenal hyperplasia ×
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: rs104894087
rs104894087 		1.000 0.200 8 38144382 stop gained C/T snv
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1254559989
rs1254559989 		1.000 0.200 8 38146107 missense variant T/C snv 4.0E-06
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1298369560
rs1298369560 		1.000 0.200 8 38150753 splice donor variant A/G snv 4.1E-06
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1350908961
rs1350908961 		1.000 0.200 8 38144320 frameshift variant G/- delins 4.1E-06 2.1E-05
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554502668
rs1554502668 		1.000 0.200 8 38144374 splice acceptor variant GGCAGCCACCCCTG/- delins
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554502732
rs1554502732 		1.000 0.200 8 38145289 frameshift variant A/- del
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554502986
rs1554502986 		1.000 0.200 8 38148329 splice acceptor variant T/C snv
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1563268652
rs1563268652 		1.000 0.200 8 38148304 frameshift variant AG/- delins
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1563268785
rs1563268785 		1.000 0.200 8 38148638 splice donor variant -/A delins
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs749626865
rs749626865 		1.000 0.200 8 38145316 splice acceptor variant C/G;T snv 4.0E-06
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs765904696
rs765904696 		1.000 0.200 8 38148207 frameshift variant TC/- delins
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554502663
rs1554502663 		1.000 0.200 8 38144329 frameshift variant -/A delins
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 1997 1997
dbSNP: rs1554503011
rs1554503011 		1.000 0.200 8 38148640 splice donor variant C/G snv
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs193922393
rs193922393 		1.000 0.200 8 38148684 frameshift variant A/- del 7.0E-06
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 1997 1997
dbSNP: rs771895449
rs771895449 		1.000 0.200 8 38145983 frameshift variant AG/- del
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2005 2005
dbSNP: rs1042854
rs1042854 		1.000 0.200 8 38146005 missense variant G/T snv
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs1554502725
rs1554502725 		1.000 0.200 8 38145234 frameshift variant CTGAGTAGCCACGTAAG/- delins
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 2 1996 1996
dbSNP: rs757367795
rs757367795 		1.000 0.200 8 38145271 frameshift variant C/- delins 1.6E-05
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 2 1995 2016
dbSNP: rs765968701
rs765968701 		1.000 0.200 8 38150754 splice donor variant C/A snv 7.3E-05
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 2 2004 2014
dbSNP: rs551783234
rs551783234 		1.000 0.200 8 38144352 missense variant A/G snv 1.3E-05
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.710 1.000 3 2005 2011
dbSNP: rs781281145
rs781281145 		1.000 0.200 8 38148277 stop gained G/A snv 8.0E-06
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.710 1.000 3 2004 2018
dbSNP: rs104894089
rs104894089 		1.000 0.200 8 38146054 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 3 2006 2017
dbSNP: rs387907235
rs387907235 		1.000 0.200 8 38146036 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 3 1995 2016
dbSNP: rs750549499
rs750549499 		1.000 0.200 8 38148694 frameshift variant C/-;CC delins
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 3 1997 2011
dbSNP: rs137852689
rs137852689 		1.000 0.200 8 38145963 missense variant C/G snv
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.810 1.000 4 1995 1999