rs11127417

This variant is located in the EIPR1 gene.

▶

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

TPE interval measurement, response to exercise

Ramírez J et al. “Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval.” American Journal of Human Genetics 106(6):764-778 (2020)

Allele G

OR 0.16

p 2.0e-8

N 51,897

Large GWAS

European

About EIPR1

This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008]

View all EIPR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…