DisGeNET - a database of gene-disease associations

Osteoporosis, C0029456

Variant: rs4237 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs4237

PITHD1

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

PITHD1

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