CDH1, cadherin 1, 999

N. diseases: 508; N. variants: 187
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: rs1555515445
rs1555515445
1.000 0.160 16 68810269 missense variant G/C;T snv
CUI: C4551988
Disease: BLEPHAROCHEILODONTIC SYNDROME 1
BLEPHAROCHEILODONTIC SYNDROME 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1555515925
rs1555515925
1.000 0.160 16 68813495 missense variant G/T snv
CUI: C4551988
Disease: BLEPHAROCHEILODONTIC SYNDROME 1
BLEPHAROCHEILODONTIC SYNDROME 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1555517099
rs1555517099
1.000 0.160 16 68823490 missense variant C/A snv
CUI: C4551988
Disease: BLEPHAROCHEILODONTIC SYNDROME 1
BLEPHAROCHEILODONTIC SYNDROME 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs587782798
rs587782798
0.807 0.400 16 68813322 stop gained C/T snv
CUI: C4551988
Disease: BLEPHAROCHEILODONTIC SYNDROME 1
BLEPHAROCHEILODONTIC SYNDROME 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs876658932
rs876658932
0.807 0.400 16 68801726 stop gained C/G;T snv
CUI: C4551988
Disease: BLEPHAROCHEILODONTIC SYNDROME 1
BLEPHAROCHEILODONTIC SYNDROME 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs886039685
rs886039685
1.000 0.160 16 68813496 splice donor variant G/C snv
CUI: C4551988
Disease: BLEPHAROCHEILODONTIC SYNDROME 1
BLEPHAROCHEILODONTIC SYNDROME 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0