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: 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: 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