FZD2, frizzled class receptor 2, 2535

N. diseases: 139; 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: rs1555657073
rs1555657073 		0.925 0.120 17 44558989 missense variant G/T snv
CUI: C2750355
Disease: Omodysplasia 2
Omodysplasia 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 4 2015 2018
dbSNP: rs1223920489
rs1223920489 		1.000 17 44558988 missense variant G/A snv
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 0
dbSNP: rs1555657045
rs1555657045 		1.000 17 44558818 stop gained G/A snv
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 0
dbSNP: rs1555657073
rs1555657073 		0.925 0.120 17 44558989 missense variant G/T snv
CUI: C4225164
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 		0.700 0
dbSNP: rs1555657074
rs1555657074 		1.000 17 44558989 missense variant GC/TT mnv
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 0
dbSNP: rs1568105562
rs1568105562 		17 44559091 missense variant T/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1568105666
rs1568105666 		0.925 0.120 17 44559332 stop gained G/A snv
CUI: C2750355
Disease: Omodysplasia 2
Omodysplasia 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1568105666
rs1568105666 		0.925 0.120 17 44559332 stop gained G/A snv
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 0