LMBR1, limb development membrane protein 1, 64327

N. diseases: 98; N. variants: 11
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: rs587779752
rs587779752 		0.882 0.120 7 156791474 intron variant G/A snv 7.0E-06
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs587779752
rs587779752 		0.882 0.120 7 156791474 intron variant G/A snv 7.0E-06
CUI: C1861098
Disease: Tibia, Hypoplasia of, with Polydactyly
Tibia, Hypoplasia of, with Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs587779752
rs587779752 		0.882 0.120 7 156791474 intron variant G/A snv 7.0E-06
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs606231146
rs606231146 		1.000 0.120 7 156791771 intron variant G/A;C snv
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs606231147
rs606231147 		1.000 0.080 7 156791472 intron variant C/T snv
CUI: C1861098
Disease: Tibia, Hypoplasia of, with Polydactyly
Tibia, Hypoplasia of, with Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs606231148
rs606231148 		1.000 0.120 7 156791571 intron variant T/A snv
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs606231149
rs606231149 		0.925 0.120 7 156791547 intron variant A/G snv
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs606231149
rs606231149 		0.925 0.120 7 156791547 intron variant A/G snv
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs606231150
rs606231150 		0.925 0.120 7 156791137 intron variant T/C snv
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs606231150
rs606231150 		0.925 0.120 7 156791137 intron variant T/C snv
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs606231151
rs606231151 		0.925 0.120 7 156791255 intron variant G/C snv
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs606231151
rs606231151 		0.925 0.120 7 156791255 intron variant G/C snv
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs606231152
rs606231152 		0.925 0.120 7 156791581 intron variant A/G;T snv
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs606231152
rs606231152 		0.925 0.120 7 156791581 intron variant A/G;T snv
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs606231153
rs606231153 		1.000 0.120 7 156791480 intron variant G/A snv
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs606231230
rs606231230 		1.000 0.120 7 156791579 intron variant C/T snv
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs606231231
rs606231231 		1.000 0.120 7 156791542 intron variant A/C snv
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0