MLX, MAX dimerization protein MLX, 6945

N. diseases: 40; N. variants: 5
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: rs140709867
rs140709867 		1.000 17 42565668 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C3810230
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 		0.800 0
dbSNP: rs665268
rs665268 		0.882 0.160 17 42570011 missense variant A/G snv 0.28 0.25
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs577714887
rs577714887 		1.000 17 42565656 splice region variant C/G snv 8.4E-05 7.0E-06
CUI: C4748873
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12
PONTOCEREBELLAR HYPOPLASIA, TYPE 12 		0.700 0
dbSNP: rs766482965
rs766482965 		1.000 17 42565720 frameshift variant AG/- delins 1.2E-05 2.1E-05
CUI: C4748873
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12
PONTOCEREBELLAR HYPOPLASIA, TYPE 12 		0.700 0
dbSNP: rs665268
rs665268 		0.882 0.160 17 42570011 missense variant A/G snv 0.28 0.25
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.020 1.000 2 2016 2018
dbSNP: rs2010750
rs2010750 		0.925 0.080 17 42571373 intron variant C/T snv 0.35
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2010750
rs2010750 		0.925 0.080 17 42571373 intron variant C/T snv 0.35
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs665268
rs665268 		0.882 0.160 17 42570011 missense variant A/G snv 0.28 0.25
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		Cardiovascular Diseases 0.010 1.000 1 2018 2018