FZD6, frizzled class receptor 6, 8323

N. diseases: 57; N. variants: 4
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: rs151339003
rs151339003 		1.000 8 103328406 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C3279974
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 		0.800 1.000 1 2011 2011
dbSNP: rs786205672
rs786205672 		1.000 0.200 8 103324975 missense variant A/G snv
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs151339002
rs151339002 		1.000 8 103329863 stop gained G/A;T snv 4.0E-06
CUI: C3279974
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 		0.700 0
dbSNP: rs151339002
rs151339002 		1.000 8 103329863 stop gained G/A;T snv 4.0E-06
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3808553
rs3808553 		8 103325139 missense variant A/C;G snv 0.47
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2014 2014