Gene: SERPINH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853892
rs137853892
SERPINH1
0.800 GeneticVariation UNIPROT Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. 20188343

2010
dbSNP: rs137853892
rs137853892
SERPINH1
C 0.800 CausalMutation CLINVAR

dbSNP: rs1565244847
rs1565244847
SERPINH1
GT 0.700 CausalMutation CLINVAR

dbSNP: rs886039819
rs886039819
SERPINH1
C 0.700 CausalMutation CLINVAR