FUT8, fucosyltransferase 8, 2530

N. diseases: 91; N. variants: 9
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: rs10483776
rs10483776 		14 65448149 intron variant A/G snv 0.13
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1958560
rs1958560 		14 65570077 intron variant G/A snv 0.56
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2014 2014
dbSNP: rs2898818
rs2898818 		14 65505866 intron variant G/A;C snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1297536872
rs1297536872 		1.000 14 65721948 missense variant C/G;T snv
CUI: C4693905
Disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 		0.700 0
dbSNP: rs1334593208
rs1334593208 		1.000 14 65721882 stop gained C/T snv 1.2E-05
CUI: C4693905
Disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 		0.700 0
dbSNP: rs1460811017
rs1460811017 		1.000 14 65669360 stop gained C/T snv 8.0E-06
CUI: C4693905
Disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 		0.700 0
dbSNP: rs1555388034
rs1555388034 		1.000 14 65724328 splice region variant G/T snv
CUI: C4693905
Disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 		0.700 0
dbSNP: rs35949016
rs35949016 		1.000 0.040 14 65669445 missense variant C/A snv 0.17 0.13
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs371609024
rs371609024 		0.925 0.120 14 65629530 missense variant A/G snv 4.0E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs371609024
rs371609024 		0.925 0.120 14 65629530 missense variant A/G snv 4.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015