WNT5A, Wnt family member 5A, 7474

N. diseases: 375; N. variants: 11
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 ×
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: rs387906663
rs387906663 		1.000 0.200 3 55474477 missense variant A/G snv
CUI: C4551475
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs786200925
rs786200925 		0.925 0.200 3 55479457 missense variant C/G snv
CUI: C4551475
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs1553677967
rs1553677967 		1.000 0.200 3 55474528 inframe insertion -/CCGCAG delins
CUI: C4551475
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1553677971
rs1553677971 		1.000 0.200 3 55474542 missense variant G/C snv
CUI: C4551475
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587784562
rs587784562 		1.000 0.200 3 55474534 missense variant C/G snv
CUI: C4551475
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs786204836
rs786204836 		0.925 0.200 3 55479448 missense variant T/C snv
CUI: C4551475
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.700 0