HHIP, hedgehog interacting protein, 64399

N. diseases: 122; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1492820
rs1492820
Entrez Id: 64399
Gene Symbol: HHIP
HHIP
CUI: C0005890
Disease:
Body Height 		G 0.700 GeneticVariation GWASCAT Identification of ten loci associated with height highlights new biological pathways in human growth. 18391950 2008
dbSNP: rs1492820
rs1492820
Entrez Id: 64399
Gene Symbol: HHIP
HHIP
CUI: C0489786
Disease:
Height 		G 0.700 GeneticVariation GWASDB Identification of ten loci associated with height highlights new biological pathways in human growth. 18391950 2008
dbSNP: rs1812175
rs1812175
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
CUI: C0005890
Disease:
Body Height 		C 0.700 GeneticVariation GWASCAT Many sequence variants affecting diversity of adult human height. 18391951 2008
dbSNP: rs1812175
rs1812175
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
CUI: C0489786
Disease:
Height 		C 0.700 GeneticVariation GWASDB Many sequence variants affecting diversity of adult human height. 18391951 2008
dbSNP: rs6854783
rs6854783
Entrez Id: 64399
Gene Symbol: HHIP
HHIP
CUI: C0005890
Disease:
Body Height 		A 0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies 20 loci that influence adult height. 18391952 2008
dbSNP: rs6854783
rs6854783
Entrez Id: 64399
Gene Symbol: HHIP
HHIP
CUI: C0489786
Disease:
Height 		A 0.700 GeneticVariation GWASDB Genome-wide association analysis identifies 20 loci that influence adult height. 18391952 2008
dbSNP: rs1812175
rs1812175
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
CUI: C0005890
Disease:
Body Height 		C 0.700 GeneticVariation GWASCAT Genome-wide association study of height and body mass index in Australian twin families. 20397748 2010
dbSNP: rs1812175
rs1812175
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
CUI: C0489786
Disease:
Height 		C 0.700 GeneticVariation GWASDB Genome-wide association study of height and body mass index in Australian twin families. 20397748 2010
dbSNP: rs7689420
rs7689420
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
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: rs7689420
rs7689420
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
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: rs7689420
rs7689420
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
CUI: C0489786
Disease:
Height 		C 0.700 GeneticVariation GWASDB Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. 23563607 2013
dbSNP: rs7689420
rs7689420
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
CUI: C0005890
Disease:
Body Height 		C 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. 23563607 2013
dbSNP: rs1812175
rs1812175
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
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: rs11727676
rs11727676
Entrez Id: 64399
Gene Symbol: HHIP
HHIP
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. 26426971 2015
dbSNP: rs11727676
rs11727676
Entrez Id: 64399
Gene Symbol: HHIP
HHIP
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT Genetic studies of body mass index yield new insights for obesity biology. 25673413 2015
dbSNP: rs1812175
rs1812175
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
CUI: C0455806
Disease:
Infant length 		A 0.700 GeneticVariation GWASCAT A novel common variant in DCST2 is associated with length in early life and height in adulthood. 25281659 2015
dbSNP: rs6845999
rs6845999
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
CUI: C0005890
Disease:
Body Height 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 25429064 2015
dbSNP: rs6537307
rs6537307
Entrez Id: 64399
Gene Symbol: HHIP
HHIP
CUI: C0005612
Disease:
Birth Weight 		G 0.700 GeneticVariation GWASCAT Genome-wide associations for birth weight and correlations with adult disease. 27680694 2016
dbSNP: rs146535482
rs146535482
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
CUI: C0019569
Disease:
Hirschsprung Disease 		0.010 GeneticVariation BEFREE The results suggested that, when the rs61730970, rs200798148 and rs146535482 alleles of the HH gene lacked particular single nucleotide polymorphisms (SNPs), the patients were associated with a greater risk of HSCR and/or ARM [HSCR: odds ratio (OR)=1.543, P=0.004; OR=1.494, P=0.007; rs146535482: OR=1.556, P=0.003, respectively. 27082974 2016
dbSNP: rs146535482
rs146535482
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
CUI: C3495676
Disease:
Anorectal Malformations 		0.010 GeneticVariation BEFREE Similarly, the sequencing of rs61730970 and rs146535482 revealed a loss of heterozygosity and SNPs at these loci in patients with ARM. 27082974 2016
dbSNP: rs200798148
rs200798148
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
CUI: C3495676
Disease:
Anorectal Malformations 		0.010 GeneticVariation BEFREE The results suggested that, when the rs61730970, rs200798148 and rs146535482 alleles of the HH gene lacked particular single nucleotide polymorphisms (SNPs), the patients were associated with a greater risk of HSCR and/or ARM [HSCR: odds ratio (OR)=1.543, P=0.004; OR=1.494, P=0.007; rs146535482: OR=1.556, P=0.003, respectively. 27082974 2016
dbSNP: rs200798148
rs200798148
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
CUI: C0019569
Disease:
Hirschsprung Disease 		0.010 GeneticVariation BEFREE Sequencing of rs61730970 and rs200798148 revealed a loss of heterozygosity and SNPs at these loci in patients with HSCR. 27082974 2016
dbSNP: rs61730970
rs61730970
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
CUI: C0019569
Disease:
Hirschsprung Disease 		0.010 GeneticVariation BEFREE Sequencing of rs61730970 and rs200798148 revealed a loss of heterozygosity and SNPs at these loci in patients with HSCR. 27082974 2016
dbSNP: rs61730970
rs61730970
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
CUI: C3495676
Disease:
Anorectal Malformations 		0.010 GeneticVariation BEFREE Similarly, the sequencing of rs61730970 and rs146535482 revealed a loss of heterozygosity and SNPs at these loci in patients with ARM. 27082974 2016
dbSNP: rs13106087
rs13106087
Entrez Id: 64399;646576
Gene Symbol: HHIP;HHIP-AS1
HHIP;HHIP-AS1
CUI: C0005890
Disease:
Body Height 		T 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017