Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6881956
rs6881956
Entrez Id: 64283
Gene Symbol: ARHGEF28
ARHGEF28
CUI: C0392885
Disease:
High density lipoprotein measurement
A 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs7714670
rs7714670
Entrez Id: 64283
Gene Symbol: ARHGEF28
ARHGEF28
CUI: C1861172
Disease:
Venous Thromboembolism
C 0.700 GeneticVariation GWASDB A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. 23509962 2013
dbSNP: rs1256918793
rs1256918793
Entrez Id: 64283
Gene Symbol: ARHGEF28
ARHGEF28
CUI: C0007766
Disease:
Intracranial Aneurysm
0.010 GeneticVariation BEFREE We identified that the low-frequency variant c.4394C>A_p.Ala1465Asp (rs2298808) of <i>ARHGEF17</i> was significantly associated with IA in our Chinese discovery cohort (<i>P</i>=7.3×10<sup>-</sup><sup>4</sup>; odds ratio=7.34). 29997225 2018
dbSNP: rs283628
rs283628
Entrez Id: 64283
Gene Symbol: ARHGEF28
ARHGEF28
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Similarly, carriers of the combination of DEL + RARE (rs283628 and rs8175347) are at about 12-times greater risk of developing CRC than carriers of other combinations. 29358861 2017
dbSNP: rs758898660
rs758898660
Entrez Id: 64283
Gene Symbol: ARHGEF28
ARHGEF28
CUI: C0346153
Disease:
Breast Cancer, Familial
0.010 GeneticVariation BEFREE Here, we analysed the potential impact of four polymorphic non-conservative amino acid exchanges (Arg494Trp, Lys526Gln, Asn1086Asp and Gly2461Ser) in AKAP13 on familial breast cancer. 16234258 2006