Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2244352
rs2244352
Entrez Id: 7485;106865373
Gene Symbol: GET1;GET1-SH3BGR
GET1;GET1-SH3BGR
CUI: C0014877
Disease:
Esotropia 		0.700 GeneticVariation GWASCAT A significant association with nonaccommodative esotropia was discovered (odds ratio [OR] = 1.41, P = 2.84 × 10-09) and replicated (OR = 1.23, P = 0.01) at rs2244352 [T] located within intron 1 of the WRB (tryptophan rich basic protein) gene on chromosome 21 (meta-analysis OR = 1.33, P = 9.58 × 10-11). 30098192 2018
dbSNP: rs2244352
rs2244352
Entrez Id: 7485;106865373
Gene Symbol: GET1;GET1-SH3BGR
GET1;GET1-SH3BGR
CUI: C0339623
Disease:
Primary Esotropia 		0.010 GeneticVariation BEFREE A significant association with nonaccommodative esotropia was discovered (odds ratio [OR] = 1.41, P = 2.84 × 10-09) and replicated (OR = 1.23, P = 0.01) at rs2244352 [T] located within intron 1 of the WRB (tryptophan rich basic protein) gene on chromosome 21 (meta-analysis OR = 1.33, P = 9.58 × 10-11). 30098192 2018
dbSNP: rs2244352
rs2244352
Entrez Id: 7485;106865373
Gene Symbol: GET1;GET1-SH3BGR
GET1;GET1-SH3BGR
CUI: C0152203
Disease:
Strabismus, Comitant 		0.010 GeneticVariation BEFREE Future studies of rs2244352 and WRB should provide insight into pathophysiological mechanisms underlying comitant strabismus. 30098192 2018