Disease: Verloes Bourguignon syndrome ×
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: rs121909145
rs121909145 		1.000 0.120 11 65546473 stop gained G/A;C snv 2.9E-05; 4.9E-06
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1286042594
rs1286042594 		1.000 0.120 11 65557828 frameshift variant C/- delins 1.4E-05
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1554973844
rs1554973844 		1.000 0.120 11 65546547 stop gained C/A snv
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs752375653
rs752375653 		1.000 0.120 11 65546812 frameshift variant C/-;CC delins 2.9E-05
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs796052116
rs796052116 		1.000 0.120 11 65554291 stop gained G/A snv
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs875989822
rs875989822 		1.000 0.120 11 65547462 frameshift variant TTTGAGCCGGTAGC/- delins
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs875989823
rs875989823 		1.000 0.120 11 65551971 splice donor variant C/A snv 4.0E-06
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs875989824
rs875989824 		1.000 0.120 11 65543547 frameshift variant C/- del
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs878853262
rs878853262 		1.000 0.120 11 65547808 frameshift variant -/C delins
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0