COQ8B, coenzyme Q8B, 79934

N. diseases: 23; N. variants: 15
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: rs28493229
rs28493229 		0.925 0.200 19 40718299 intron variant G/A;C snv 6.0E-06; 0.12
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.890 0.900 10 2010 2018
dbSNP: rs369573693
rs369573693 		1.000 19 40700387 missense variant G/A snv 2.0E-05 2.8E-05
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9 		0.800 1.000 2 2013 2016
dbSNP: rs398122978
rs398122978 		1.000 19 40705140 missense variant G/A snv 2.4E-05 3.5E-05
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9 		0.800 1.000 2 2013 2016
dbSNP: rs398122979
rs398122979 		1.000 19 40702636 missense variant T/C snv 1.2E-05 2.1E-05
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9 		0.800 1.000 2 2013 2016
dbSNP: rs398122981
rs398122981 		1.000 19 40700318 missense variant G/A snv 4.0E-06
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9 		0.800 1.000 2 2013 2016
dbSNP: rs1057519347
rs1057519347 		1.000 19 40692240 missense variant C/T snv 4.1E-06
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9 		0.800 1.000 1 2013 2013
dbSNP: rs1057519345
rs1057519345 		1.000 19 40714532 stop gained C/T snv 7.0E-06
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9 		0.700 1.000 1 2013 2013
dbSNP: rs1057519346
rs1057519346 		1.000 19 40700388 inframe insertion -/CGT delins
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9 		0.700 1.000 1 2013 2013
dbSNP: rs2561530
rs2561530 		19 40718409 intron variant G/A snv 0.62
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs398122980
rs398122980 		1.000 19 40692223 stop gained C/A;T snv 5.2E-05; 2.6E-05
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9 		0.700 1.000 1 2013 2013
dbSNP: rs398122982
rs398122982 		1.000 19 40695998 frameshift variant -/T delins 4.0E-06
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9 		0.700 1.000 1 2013 2013
dbSNP: rs398122983
rs398122983 		1.000 19 40692308 frameshift variant AGGGCCC/- del
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9 		0.700 1.000 1 2013 2013
dbSNP: rs4803358
rs4803358 		19 40708891 intron variant T/C snv 0.47
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs764587648
rs764587648 		1.000 19 40703787 frameshift variant A/- delins 2.8E-05 2.8E-05
CUI: C3809965
Disease: NEPHROTIC SYNDROME, TYPE 9
NEPHROTIC SYNDROME, TYPE 9 		0.700 1.000 1 2013 2013
dbSNP: rs28493229
rs28493229 		0.925 0.200 19 40718299 intron variant G/A;C snv 6.0E-06; 0.12
CUI: C4016969
Disease: KAWASAKI DISEASE, SUSCEPTIBILITY TO
KAWASAKI DISEASE, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs113358395
rs113358395 		1.000 0.040 19 40714313 missense variant G/A;C snv 3.8E-03 3.5E-03
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs28493229
rs28493229 		0.925 0.200 19 40718299 intron variant G/A;C snv 6.0E-06; 0.12
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012