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rs1800860

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 10% smaller kidneys as newborns
(A;G) 10% smaller kidneys as newborns
(G;G) 1 Normal sized kidneys as newborns
ReferenceGRCh38 38.1/141
Chromosome10
Position43111239
GeneRET
is asnp
is mentioned by
dbSNPrs1800860
ebirs1800860
HLIrs1800860
Exacrs1800860
Varsomers1800860
Maprs1800860
PheGenIrs1800860
hapmaprs1800860
1000 genomesrs1800860
hgdprs1800860
ensemblrs1800860
gopubmedrs1800860
geneviewrs1800860
scholarrs1800860
googlers1800860
pharmgkbrs1800860
gwascentralrs1800860
openSNPrs1800860
23andMers1800860
23andMe allrs1800860
SNP Nexus

SNPshotrs1800860
SNPdbers1800860
MSV3drs1800860
GWAS Ctlgrs1800860
GMAF0.225
Max Magnitude1
? (A;A) (A;G) (G;G) 28
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 18820179OA-icon.png] A common RET variant is associated with reduced newborn kidney size and function.


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


[PMID 21349203OA-icon.png] 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 24897126OA-icon.png] RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease


ClinVar
Risk rs1800860(G;G)
Alt rs1800860(G;G)
Reference rs1800860(A;A)
Significance Non-pathogenic
Disease not specified Hereditary cancer-predisposing syndrome
Variation info
Gene RET
CLNDBN not specified Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000010.10:g.43606687A>G
CLNSRC HGMD
CLNACC RCV000082048.5, RCV000131068.2,