WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
Disease: Short Rib-Polydactyly Syndrome ×
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: rs1050086118
rs1050086118 		0.925 0.080 2 19946549 stop gained G/A;T snv 4.0E-06
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1558342399
rs1558342399 		0.925 0.080 2 19953834 missense variant C/T snv
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs886044119
rs886044119 		0.925 0.080 2 19951417 frameshift variant G/- del 8.1E-06 1.4E-05
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0