B4GALT3, beta-1,4-galactosyltransferase 3, 8703

N. diseases: 19; 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: rs1361576529
rs1361576529 		1.000 0.160 1 161171039 missense variant G/C snv
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1996 2013
dbSNP: rs4575098
rs4575098 		1.000 0.080 1 161185602 3 prime UTR variant G/A snv 0.18
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs4575098
rs4575098 		1.000 0.080 1 161185602 3 prime UTR variant G/A snv 0.18
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1057518798
rs1057518798 		1.000 0.120 1 161170939 stop gained G/A snv
CUI: C0232488
Disease: Abdominal colic
Abdominal colic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1057518798
rs1057518798 		1.000 0.120 1 161170939 stop gained G/A snv
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs1057518798
rs1057518798 		1.000 0.120 1 161170939 stop gained G/A snv
CUI: C0151861
Disease: Porphyruria
Porphyruria 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs148292941
rs148292941 		1 161171095 stop gained T/C;G snv 8.0E-06 6.3E-05
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs148292941
rs148292941 		1 161171095 stop gained T/C;G snv 8.0E-06 6.3E-05
CUI: C0522153
Disease: Urine Discoloration
Urine Discoloration 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs148292941
rs148292941 		1 161171095 stop gained T/C;G snv 8.0E-06 6.3E-05
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs148292941
rs148292941 		1 161171095 stop gained T/C;G snv 8.0E-06 6.3E-05
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs928944841
rs928944841 		1.000 0.160 1 161171099 missense variant G/A snv 7.0E-06
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs761875612
rs761875612 		1.000 0.040 1 161175160 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2016 2016