WNT5A, Wnt family member 5A, 7474

N. diseases: 375; N. variants: 11
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: rs786200925
rs786200925 		0.925 0.200 3 55479457 missense variant C/G snv
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs786204836
rs786204836 		0.925 0.200 3 55479448 missense variant T/C snv
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs815540
rs815540 		3 55483019 intron variant A/G snv 0.53
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs869312850
rs869312850 		1.000 0.200 3 55474476 missense variant C/G snv
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.700 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
dbSNP: rs1439009595
rs1439009595 		1.000 0.080 3 55480787 stop gained C/T snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs504849
rs504849 		3 55488911 intron variant T/C;G snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2015 2015
dbSNP: rs524153
rs524153 		3 55491957 upstream gene variant T/A;G snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2015 2015