PITHD1, PITH domain containing 1, 57095

N. diseases: 1; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397826789
rs397826789
Entrez Id: 57095
Gene Symbol: PITHD1
PITHD1
CUI: C0206161
Disease:
Reticulocyte count (procedure) 		CAT 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs4237
rs4237
Entrez Id: 57095
Gene Symbol: PITHD1
PITHD1
CUI: C0029456
Disease:
Osteoporosis 		0.020 GeneticVariation BEFREE However, no significant correlations were found when analyzing the association of rs4237 and rs2229579 with OP risk. 31832174 2019
dbSNP: rs4237
rs4237
Entrez Id: 57095
Gene Symbol: PITHD1
PITHD1
CUI: C0029456
Disease:
Osteoporosis 		0.020 GeneticVariation BEFREE Additionally, analyses by haplotypes indicated that two haplotype blocks, containing rs423</span>7 and rs2501431 respectively, in the CNR2 gene significantly associated with BMD and osteoporosis (both global permutation p < 0.001), and a risk haplotype (ATTT) in the block of rs3003336-rs2501431-rs2502992-rs2501432 had almost 4-fold increase in the cases. 26055357 2015