SELENBP1, selenium binding protein 1, 8991

N. diseases: 214; N. variants: 8
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: rs1553204840
rs1553204840 		1.000 1 151365622 missense variant G/A snv
CUI: C4748387
Disease: EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY
EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY 		0.800 1.000 1 2018 2018
dbSNP: rs758495626
rs758495626 		1.000 1 151366445 missense variant C/A;T snv 1.6E-05; 8.0E-05
CUI: C4748387
Disease: EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY
EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY 		0.800 1.000 1 2018 2018
dbSNP: rs1357490520
rs1357490520 		1.000 1 151368198 splice donor variant C/A;T snv 4.0E-06
CUI: C4748387
Disease: EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY
EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY 		0.700 0
dbSNP: rs1553204817
rs1553204817 		1.000 1 151365568 stop gained C/A snv
CUI: C4748387
Disease: EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY
EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY 		0.700 0
dbSNP: rs1012657750
rs1012657750 		1 151368294 missense variant G/C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1012657750
rs1012657750 		1 151368294 missense variant G/C snv
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1249051329
rs1249051329 		1 151369834 synonymous variant T/C snv 3.5E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1249051329
rs1249051329 		1 151369834 synonymous variant T/C snv 3.5E-05
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1308703978
rs1308703978 		1 151365194 missense variant C/A;T snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs771038258
rs771038258 		1 151365837 missense variant A/G snv 8.0E-06 2.1E-05
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs771038258
rs771038258 		1 151365837 missense variant A/G snv 8.0E-06 2.1E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2020 2020