LRP4, LDL receptor related protein 4, 4038

N. diseases: 151; N. variants: 23
Disease: Syndactyly Cenani Lenz type ×
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: rs267607220
rs267607220 		1.000 0.080 11 46893085 missense variant C/T snv
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2010 2010
dbSNP: rs267607221
rs267607221 		1.000 0.080 11 46899455 missense variant C/T snv 7.0E-06
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2010 2010
dbSNP: rs267607222
rs267607222 		1.000 0.080 11 46899884 missense variant C/T snv
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2010 2010
dbSNP: rs267607223
rs267607223 		1.000 0.080 11 46894748 missense variant T/C;G snv 4.0E-06
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2010 2010
dbSNP: rs267607224
rs267607224 		1.000 0.080 11 46894784 missense variant C/T snv
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2010 2010
dbSNP: rs780336679
rs780336679 		0.925 0.080 11 46900261 splice donor variant C/T snv 2.4E-05 1.4E-05
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1565785959
rs1565785959 		0.882 0.080 11 46879264 stop gained C/A snv
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1565801326
rs1565801326 		1.000 0.080 11 46900387 intron variant C/T snv
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs762425885
rs762425885 		1.000 0.080 11 46899386 splice donor variant C/T snv 4.0E-06
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0