DVL3, dishevelled segment polarity protein 3, 1857

N. diseases: 167; N. variants: 6
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: rs869025215
rs869025215 		0.925 0.200 3 184170088 frameshift variant G/- 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 1.000 1 2016 2016
dbSNP: rs869025216
rs869025216 		0.925 0.200 3 184170317 splice acceptor 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 0.700 1.000 1 2016 2016
dbSNP: rs869025217
rs869025217 		0.925 0.200 3 184170318 splice acceptor variant G/A 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 1.000 1 2016 2016
dbSNP: rs869025218
rs869025218 		0.925 0.200 3 184170320 frameshift variant C/- del
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 1.000 1 2016 2016
dbSNP: rs869025219
rs869025219 		0.925 0.200 3 184170353 frameshift variant C/- del
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 1.000 1 2016 2016
dbSNP: rs1553811652
rs1553811652 		1.000 3 184170124 frameshift variant G/- del
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 0
dbSNP: rs869025215
rs869025215 		0.925 0.200 3 184170088 frameshift variant G/- delins
CUI: C4225164
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 		0.700 0
dbSNP: rs869025216
rs869025216 		0.925 0.200 3 184170317 splice acceptor variant A/G snv
CUI: C4225164
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 		0.700 0
dbSNP: rs869025217
rs869025217 		0.925 0.200 3 184170318 splice acceptor variant G/A snv
CUI: C4225164
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 		0.700 0
dbSNP: rs869025218
rs869025218 		0.925 0.200 3 184170320 frameshift variant C/- del
CUI: C4225164
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 		0.700 0
dbSNP: rs869025219
rs869025219 		0.925 0.200 3 184170353 frameshift variant C/- del
CUI: C4225164
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 		0.700 0