WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
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: rs113386058
rs113386058 		2 19944070 intron variant A/T snv 1.9E-02
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs1381817
rs1381817 		2 19979459 intron variant C/T snv 7.7E-02
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3731663
rs3731663 		2 19989328 intron variant C/A;G;T snv 0.54
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2019 2019
dbSNP: rs200649783
rs200649783 		0.827 0.120 2 19969556 missense variant C/A snv 2.4E-05 2.8E-05
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.800 1.000 3 2011 2017
dbSNP: rs200649783
rs200649783 		0.827 0.120 2 19969556 missense variant C/A snv 2.4E-05 2.8E-05
CUI: C4694035
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs200649783
rs200649783 		0.827 0.120 2 19969556 missense variant C/A snv 2.4E-05 2.8E-05
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs200649783
rs200649783 		0.827 0.120 2 19969556 missense variant C/A snv 2.4E-05 2.8E-05
CUI: C4747658
Disease: SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC 		0.700 0
dbSNP: rs200649783
rs200649783 		0.827 0.120 2 19969556 missense variant C/A snv 2.4E-05 2.8E-05
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs199952377
rs199952377 		0.851 0.160 2 19941796 stop gained A/C snv 1.6E-04 1.9E-04
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.700 1.000 3 2013 2017
dbSNP: rs199952377
rs199952377 		0.851 0.160 2 19941796 stop gained A/C snv 1.6E-04 1.9E-04
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 1.000 3 2013 2017
dbSNP: rs199952377
rs199952377 		0.851 0.160 2 19941796 stop gained A/C snv 1.6E-04 1.9E-04
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 3 2013 2017
dbSNP: rs200140363
rs200140363 		0.851 0.160 2 19953852 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs200140363
rs200140363 		0.851 0.160 2 19953852 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs200140363
rs200140363 		0.851 0.160 2 19953852 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases 0.710 1.000 1 2018 2018
dbSNP: rs199952377
rs199952377 		0.851 0.160 2 19941796 stop gained A/C snv 1.6E-04 1.9E-04
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs200140363
rs200140363 		0.851 0.160 2 19953852 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs200140363
rs200140363 		0.851 0.160 2 19953852 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.700 0
dbSNP: rs371669862
rs371669862 		0.925 2 19960553 splice donor variant C/A;G;T snv 8.0E-06
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 1.000 6 2011 2018
dbSNP: rs371669862
rs371669862 		0.925 2 19960553 splice donor variant C/A;G;T snv 8.0E-06
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.700 1.000 6 2011 2018
dbSNP: rs1050086118
rs1050086118 		0.925 0.080 2 19946549 stop gained G/A;T snv 4.0E-06
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.700 1.000 1 2017 2017
dbSNP: rs1558342399
rs1558342399 		0.925 0.080 2 19953834 missense variant C/T snv
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.700 1.000 1 2017 2017
dbSNP: rs267607174
rs267607174 		0.925 0.120 2 19945787 missense variant T/C snv
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.800 1.000 1 2010 2010
dbSNP: rs267607175
rs267607175 		0.925 0.120 2 19933469 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.800 1.000 1 2010 2010
dbSNP: rs746128772
rs746128772 		0.925 2 19914054 synonymous variant C/T snv 1.6E-05
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 1.000 1 2015 2015
dbSNP: rs746128772
rs746128772 		0.925 2 19914054 synonymous variant C/T snv 1.6E-05
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.700 1.000 1 2015 2015