PORCN, porcupine O-acyltransferase, 64840

N. diseases: 162; N. variants: 9
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: rs267606973
rs267606973 		1.000 0.120 X 48511336 missense variant G/A snv
CUI: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 8 2007 2011
dbSNP: rs1057519006
rs1057519006 		1.000 0.120 X 48512598 missense variant T/C snv
CUI: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1114167283
rs1114167283 		1.000 0.120 X 48511426 stop gained C/T snv
CUI: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs137852218
rs137852218 		1.000 0.120 X 48511932 stop gained C/T snv
CUI: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs137852219
rs137852219 		1.000 0.120 X 48511380 stop gained G/A snv
CUI: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1556975151
rs1556975151 		1.000 0.120 X 48515795 splice donor variant T/A snv
CUI: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs387906723
rs387906723 		1.000 0.120 X 48516082 missense variant G/A snv 1.6E-05 9.5E-06
CUI: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs587776737
rs587776737 		1.000 0.120 X 48515922 frameshift variant -/CCTGGCTTTTATC delins
CUI: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057517951
rs1057517951 		1.000 0.120 X 48517259 missense variant T/C snv
CUI: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2013 2013