SERPINH1, serpin family H member 1, 871

N. diseases: 148; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs590121
rs590121
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C1956346
Disease:
Coronary Artery Disease
T 0.800 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs590121
rs590121
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C1956346
Disease:
Coronary Artery Disease
0.800 GeneticVariation GWASDB Large-scale association analysis identifies new risk loci for coronary artery disease. 23202125 2013
dbSNP: rs137853892
rs137853892
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C3151211
Disease:
OSTEOGENESIS IMPERFECTA, TYPE X
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
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C3151211
Disease:
OSTEOGENESIS IMPERFECTA, TYPE X
C 0.800 CausalMutation CLINVAR
dbSNP: rs606452
rs606452
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs606452
rs606452
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs634552
rs634552
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs645935
rs645935
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs606452
rs606452
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C1956346
Disease:
Coronary Artery Disease
A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs659418
rs659418
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C1956346
Disease:
Coronary Artery Disease
T 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs606452
rs606452
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C4049938
Disease:
Physical Activity Measurement
A 0.700 GeneticVariation GWASCAT Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. 28448500 2017
dbSNP: rs634552
rs634552
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C0005890
Disease:
Body Height
G 0.700 GeneticVariation GWASCAT Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. 28270201 2017
dbSNP: rs659418
rs659418
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C0005890
Disease:
Body Height
T 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
dbSNP: rs606452
rs606452
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C0005890
Disease:
Body Height
A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 25429064 2015
dbSNP: rs606452
rs606452
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C0005890
Disease:
Body Height
A 0.700 GeneticVariation GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103 2014
dbSNP: rs606452
rs606452
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C0005890
Disease:
Body Height
C 0.700 GeneticVariation GWASCAT Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe). 22021425 2012
dbSNP: rs606452
rs606452
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C0489786
Disease:
Height
C 0.700 GeneticVariation GWASDB Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe). 22021425 2012
dbSNP: rs634552
rs634552
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C0489786
Disease:
Height
T 0.700 GeneticVariation GWASDB Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
dbSNP: rs634552
rs634552
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C0005890
Disease:
Body Height
T 0.700 GeneticVariation GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
dbSNP: rs1565244847
rs1565244847
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C3151211
Disease:
OSTEOGENESIS IMPERFECTA, TYPE X
GT 0.700 CausalMutation CLINVAR
dbSNP: rs886039819
rs886039819
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C3151211
Disease:
OSTEOGENESIS IMPERFECTA, TYPE X
C 0.700 CausalMutation CLINVAR
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