SFTPC, surfactant protein C, 6440

N. diseases: 89; N. variants: 11
Disease: Respiratory Distress Syndrome, Newborn ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370068089
rs370068089
Entrez Id: 649;6440
Gene Symbol: BMP1;SFTPC
BMP1;SFTPC
CUI: C0035220
Disease:
Respiratory Distress Syndrome, Newborn 		0.010 GeneticVariation BEFREE We previously identified the c.435G>C variant in the SFTPC gene associated with fatal neonatal respiratory distress syndrome in an infant girl. 28295039 2017