Disease: Weill-Marchesani-Like 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: rs1160509052
rs1160509052 		1.000 0.160 15 100262351 splice donor variant C/A;T snv 4.0E-06 7.0E-06
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1555501030
rs1555501030 		1.000 0.160 15 100281366 frameshift variant C/- delins
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs267606638
rs267606638 		1.000 0.160 15 100281258 stop gained G/A snv
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs387906291
rs387906291 		1.000 0.160 15 100048989 splice acceptor variant -/C delins
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs749116256
rs749116256 		1.000 0.160 15 100132006 splice donor variant C/T snv 3.2E-05 2.8E-05
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0