WDR83, WD repeat domain 83, 84292

N. diseases: 8; N. variants: 23
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: rs864621977
rs864621977 		1.000 0.080 19 12664832 missense variant G/C snv
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 9 1997 2015
dbSNP: rs387906261
rs387906261 		1.000 0.080 19 12665750 missense variant T/A;G snv
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 7 1997 2012
dbSNP: rs746702002
rs746702002 		1.000 0.080 19 12665743 missense variant G/A;T snv 1.6E-05; 2.0E-05
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1997 2012
dbSNP: rs754036398
rs754036398 		1.000 0.080 19 12665505 missense variant C/G;T snv 4.0E-06
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1997 2012
dbSNP: rs772108001
rs772108001 		1.000 0.080 19 12664824 missense variant G/T snv 8.0E-06 7.0E-06
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1997 2012
dbSNP: rs864621975
rs864621975 		1.000 0.080 19 12665801 missense variant C/A snv
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1997 2012
dbSNP: rs864621976
rs864621976 		1.000 0.080 19 12664947 missense variant C/T snv 7.0E-06
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1997 2012
dbSNP: rs864621978
rs864621978 		1.000 0.080 19 12664823 missense variant T/A snv
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1997 2012
dbSNP: rs864621979
rs864621979 		1.000 0.080 19 12664817 missense variant C/G snv
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1997 2012
dbSNP: rs370803545
rs370803545 		1.000 0.080 19 12665370 stop gained G/A;T snv 1.6E-05; 1.2E-05
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2012 2015
dbSNP: rs117130511
rs117130511 		19 12665022 intron variant G/A snv 8.7E-03 9.0E-03
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs12976574
rs12976574 		19 12671609 3 prime UTR variant A/G;T snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs12976574
rs12976574 		19 12671609 3 prime UTR variant A/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: rs1429239930
rs1429239930 		1.000 0.080 19 12664860 stop gained G/A snv 7.0E-06
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2005 2005
dbSNP: rs1555710070
rs1555710070 		1.000 0.080 19 12665734 stop gained C/T snv
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs186561556
rs186561556 		19 12669525 3 prime UTR variant G/C;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs778399351
rs778399351 		1.000 0.080 19 12665366 frameshift variant T/- del 4.1E-06 1.4E-05
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs794727484
rs794727484 		1.000 0.080 19 12665493 missense variant A/G snv
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1057516325
rs1057516325 		1.000 0.080 19 12665511 stop gained G/A snv
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516501
rs1057516501 		1.000 0.080 19 12666541 splice donor variant A/G;T snv 5.4E-06
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516682
rs1057516682 		1.000 0.080 19 12664976 frameshift variant T/- del
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516810
rs1057516810 		1.000 0.080 19 12666648 frameshift variant -/A ins
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516972
rs1057516972 		1.000 0.080 19 12666608 frameshift variant -/C delins 6.3E-06
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555710254
rs1555710254 		1.000 0.080 19 12666542 splice donor variant C/T snv
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0