P4HB, prolyl 4-hydroxylase subunit beta, 5034

N. diseases: 222; N. variants: 6
Disease: COLE-CARPENTER SYNDROME 1 ×
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: rs786204843
rs786204843 		0.925 0.200 17 81845742 missense variant T/C snv
CUI: C4317154
Disease: COLE-CARPENTER SYNDROME 1
COLE-CARPENTER SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 0