TBCD, tubulin folding cofactor D, 6904

N. diseases: 129; N. variants: 24
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: rs181969865
rs181969865 		1.000 17 82924992 missense variant C/T snv 3.6E-05 7.0E-06
CUI: C4310671
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.800 1.000 4 2016 2017
dbSNP: rs749225304
rs749225304 		1.000 17 82906007 missense variant G/A;T snv 4.1E-06; 6.9E-05
CUI: C4310671
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.800 1.000 4 2016 2017
dbSNP: rs755177846
rs755177846 		1.000 17 82938132 missense variant C/T snv 6.9E-05 4.9E-05
CUI: C4310671
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.800 1.000 4 2016 2017
dbSNP: rs764085684
rs764085684 		1.000 17 82807650 missense variant G/A snv 7.0E-06
CUI: C4310671
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.800 1.000 4 2016 2017
dbSNP: rs778417127
rs778417127 		1.000 17 82781636 missense variant T/G snv 2.0E-05 1.4E-05
CUI: C4310671
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.800 1.000 4 2016 2017
dbSNP: rs886041085
rs886041085 		1.000 17 82929180 missense variant G/A snv 7.0E-06
CUI: C4310671
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.800 1.000 4 2016 2017
dbSNP: rs886041086
rs886041086 		1.000 17 82809719 missense variant T/G snv
CUI: C4310671
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.800 0
dbSNP: rs886041087
rs886041087 		1.000 17 82929229 missense variant C/G snv
CUI: C4310671
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.800 0
dbSNP: rs764003906
rs764003906 		1.000 17 82938080 missense variant G/A snv 2.8E-05 4.2E-05
CUI: C4310671
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.700 1.000 4 2016 2017
dbSNP: rs111873142
rs111873142 		17 82910808 intron variant C/G;T snv
CUI: C0015944
Disease: Fetal Membranes, Premature Rupture
Fetal Membranes, Premature Rupture 		Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2019 2019
dbSNP: rs2248894
rs2248894 		17 82750148 intron variant C/G;T snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs2248894
rs2248894 		17 82750148 intron variant C/G;T snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs79316200
rs79316200 		17 82935712 intron variant C/T snv 7.4E-02
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs9896933
rs9896933 		1.000 0.080 17 82940212 intron variant T/C snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1409600874
rs1409600874 		1.000 17 82756210 missense variant A/G;T snv 4.1E-06
CUI: C4310671
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.700 0
dbSNP: rs1555641324
rs1555641324 		1.000 17 82900662 missense variant C/T snv
CUI: C4310671
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.700 0
dbSNP: rs754750539
rs754750539 		1.000 17 82924958 stop gained C/A snv
CUI: C4310671
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.700 0
dbSNP: rs775014444
rs775014444 		1.000 17 82870328 missense variant G/A snv 1.2E-05
CUI: C4310671
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.700 0
dbSNP: rs867484272
rs867484272 		1.000 17 82929490 missense variant C/T snv 4.1E-06; 4.1E-06 7.0E-06
CUI: C4310671
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.700 0
dbSNP: rs886041084
rs886041084 		1.000 17 82893535 intron variant C/G snv
CUI: C4310671
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.700 0
dbSNP: rs953299085
rs953299085 		1.000 17 82807641 missense variant C/T snv
CUI: C4310671
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.700 0
dbSNP: rs1056534
rs1056534 		0.882 0.200 17 82750725 synonymous variant C/A;G;T snv 0.62
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1056534
rs1056534 		0.882 0.200 17 82750725 synonymous variant C/A;G;T snv 0.62
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1056534
rs1056534 		0.882 0.200 17 82750725 synonymous variant C/A;G;T snv 0.62
CUI: C1512508
Disease: Human herpesvirus 8 infection
Human herpesvirus 8 infection 		Infections; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1056534
rs1056534 		0.882 0.200 17 82750725 synonymous variant C/A;G;T snv 0.62
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.010 1.000 1 2014 2014