B4GALT6, beta-1,4-galactosyltransferase 6, 9331

N. diseases: 5; N. variants: 6
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: rs10438933
rs10438933 		1.000 0.080 18 31693166 intergenic variant A/G snv 0.14
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 1 2009 2009
dbSNP: rs113222817
rs113222817 		18 31636351 intron variant T/G snv 3.0E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs201022770
rs201022770 		18 31633396 intron variant -/T delins 3.0E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9973109
rs9973109 		18 31666244 intron variant A/C snv 4.1E-03 3.9E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs73956431
rs73956431 		0.827 0.120 18 31699870 regulatory region variant C/T snv 8.4E-02
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs73956431
rs73956431 		0.827 0.120 18 31699870 regulatory region variant C/T snv 8.4E-02
CUI: C0264694
Disease: Chronic myocardial ischemia
Chronic myocardial ischemia 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs73956431
rs73956431 		0.827 0.120 18 31699870 regulatory region variant C/T snv 8.4E-02
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs73956431
rs73956431 		0.827 0.120 18 31699870 regulatory region variant C/T snv 8.4E-02
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs73956431
rs73956431 		0.827 0.120 18 31699870 regulatory region variant C/T snv 8.4E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs73956431
rs73956431 		0.827 0.120 18 31699870 regulatory region variant C/T snv 8.4E-02
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs970866
rs970866 		0.851 0.160 18 31681955 intron variant C/T snv 0.89
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs970866
rs970866 		0.851 0.160 18 31681955 intron variant C/T snv 0.89
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs970866
rs970866 		0.851 0.160 18 31681955 intron variant C/T snv 0.89
CUI: C0264694
Disease: Chronic myocardial ischemia
Chronic myocardial ischemia 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs970866
rs970866 		0.851 0.160 18 31681955 intron variant C/T snv 0.89
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019