SERPINH1, serpin family H member 1, 871

N. diseases: 148; N. variants: 8
Disease: Osteogenesis Imperfecta ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853892
rs137853892
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C0029434
Disease:
Osteogenesis Imperfecta 		0.010 GeneticVariation BEFREE We have identified an autosomal-recessive missense mutation (c.233T>C, p.Leu78Pro) in SERPINH1, which encodes the collagen chaperone-like protein HSP47, that leads to a severe OI phenotype. 20188343 2010
dbSNP: rs137853892
rs137853892
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C0029434
Disease:
Osteogenesis Imperfecta 		0.010 GeneticVariation BEFREE We have identified an autosomal-recessive missense mutation (c.233T>C, p.Leu78Pro) in SERPINH1, which encodes the collagen chaperone-like protein HSP47, that leads to a severe OI phenotype. 20188343 2010