LMBR1, limb development membrane protein 1, 64327

N. diseases: 98; N. variants: 11
Disease: Triphalangeal thumb ×
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: 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: 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: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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