DisGeNET - a database of gene-disease associations

Kashin-Beck Disease, C2745963

Variant: rs1531928 ×

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:

rs1531928

ITPR2

0.010

GeneticVariation

BEFREE

The replication study showed significant associations with KBD at 9 ITPR2 SNPs, including rs10842750 (P = 5.97 × 10(-3) ), rs16931011 (P = 1.29 × 10(-3) ), rs1531928 (P = 4.95 × 10(-3) ), rs4414322 (P = 4.40 × 10(-3) ), rs11048570 (P = 4.53 × 10(-3) ), rs11048572 (P = 4.43 × 10(-3) ), rs2017510 (P = 4.58 × 10(-3) ), rs9669395 (P = 5.77 × 10(-3) ), and rs1002835 (P = 4.85 × 10(-3) ).

25303641

2015