rs1800860 is a SNP in the RET ret proto-oncogene.

A study of newborns concluded that Caucasian newborns who were clinically normal and carried a rs1800860(A) allele had kidney volumes 10% smaller and cord blood cystatin C levels 9% higher than those with the rs1800860(G;G) genotype. Since individuals with lower nephron numbers have an increased lifetime risk for essential hypertension or renal insufficiency, this may have clinical consequences in adult life (but this remains to be proven).

[PMID 20454948] Association analysis of the RET proto-oncogene with Hirschsprung disease in the Han Chinese population of southeastern China

[PMID 18820179] A common RET variant is associated with reduced newborn kidney size and function.

[PMID 20532249] Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.

[PMID 21349203] Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis.

[PMID 21821672] A variant OSR1 allele which disturbs OSR1 mRNA expression in renal progenitor cells is associated with reduction of newborn kidney size and function.

[PMID 24897126] RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease


Parent Gene: RET

Importance: 1
Less common allele: A = 22%
More common allele: G = 78%
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