Disease: 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: rs886038207
rs886038207 		0.925 0.200 6 32038580 frameshift variant TC/- delins
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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: rs6475
rs6475 		0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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 0.030 1.000 3 1991 2019
dbSNP: rs1312209092
rs1312209092 		0.925 0.240 6 32041068 missense variant G/A snv
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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 0.020 1.000 2 2006 2015
dbSNP: rs7755898
rs7755898 		0.827 0.240 6 32040421 stop gained C/T snv 3.6E-03
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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 0.020 1.000 2 2009 2017
dbSNP: rs9378251
rs9378251 		0.776 0.320 6 32038514 missense variant C/T snv 9.2E-05 5.4E-04
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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 0.020 1.000 2 2003 2019
dbSNP: rs1245238711
rs1245238711 		0.925 0.240 6 32040940 missense variant G/A snv 2.1E-05
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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 2015 2015
dbSNP: rs1330554738
rs1330554738 		0.925 0.200 6 32040562 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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 2011 2011
dbSNP: rs151344505
rs151344505 		0.882 0.240 6 32040179 missense variant G/A snv 1.1E-04 9.8E-05
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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 2009 2009
dbSNP: rs200005406
rs200005406 		0.851 0.200 6 32041097 missense variant G/A;C snv 8.8E-06; 3.3E-04
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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: rs63749090
rs63749090 		0.851 0.280 6 32038468 missense variant G/A snv 2.1E-05
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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 2003 2003
dbSNP: rs6445
rs6445 		0.827 0.240 6 32041006 missense variant C/T snv 4.6E-03 5.2E-03
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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 2002 2002
dbSNP: rs6471
rs6471 		0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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 2007 2007
dbSNP: rs72552744
rs72552744 		1.000 0.200 6 32038491 stop gained G/A;T snv 5.5E-04
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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 1996 1996
dbSNP: rs72552755
rs72552755 		0.925 0.200 6 32040490 missense variant C/G;T snv 5.2E-05
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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 2015 2015
dbSNP: rs758658540
rs758658540 		1.000 0.200 6 32040565 missense variant C/A;G;T snv 4.0E-06; 2.6E-04
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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 2015 2015
dbSNP: rs759736443
rs759736443 		0.882 0.240 6 32041096 missense variant C/T snv 2.1E-04; 2.7E-05 7.0E-06
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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 2012 2012
dbSNP: rs770059546
rs770059546 		0.925 0.240 6 32040197 missense variant C/A;G snv 5.7E-05
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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 2012 2012
dbSNP: rs776989258
rs776989258 		0.807 0.280 6 32041093 missense variant C/G;T snv 5.5E-04
CUI: C0001627
Disease: Congenital adrenal hyperplasia
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 2002 2002