COLEC10, collectin subfamily member 10, 10584

N. diseases: 70; N. variants: 92
Disease: Malpuech facial clefting 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: rs773764995
rs773764995 		1.000 0.160 8 119105885 missense variant C/G snv 1.6E-05
CUI: C0796032
Disease: Malpuech facial clefting syndrome
Malpuech facial clefting syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1060505022
rs1060505022 		1.000 0.160 8 119091154 frameshift variant A/- delins
CUI: C0796032
Disease: Malpuech facial clefting syndrome
Malpuech facial clefting syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.700 0
dbSNP: rs149010496
rs149010496 		1.000 0.160 8 119067306 stop gained C/T snv 3.6E-05 1.4E-05
CUI: C0796032
Disease: Malpuech facial clefting syndrome
Malpuech facial clefting syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.700 0