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rs1800862

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1800862(C;T)
Make rs1800862(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position43119646
GeneRET
is asnp
is mentioned by
dbSNPrs1800862
dbSNP (old)rs1800862
ClinGenrs1800862
ebirs1800862
HLIrs1800862
Exacrs1800862
Gnomadrs1800862
Varsomers1800862
Maprs1800862
PheGenIrs1800862
Biobankrs1800862
1000 genomesrs1800862
hgdprs1800862
ensemblrs1800862
gopubmedrs1800862
geneviewrs1800862
scholarrs1800862
googlers1800862
pharmgkbrs1800862
gwascentralrs1800862
openSNPrs1800862
23andMers1800862
23andMe allrs1800862
SNP Nexus

SNPshotrs1800862
SNPdbers1800862
MSV3drs1800862
GWAS Ctlgrs1800862
GMAF0.03168
Max Magnitude0

[PMID 23059849] Medullary thyroid carcinoma (MTC) and RET proto-oncogene: mutation spectrum in the familial cases and a meta-analysis of studies on the sporadic form


ClinVar
Risk rs1800862(T;T)
Alt rs1800862(T;T)
Reference Rs1800862(C;C)
Significance Other
Disease No MEN2 disease not specified Multiple endocrine neoplasia Hirschsprung Disease Pheochromocytoma Renal adysplasia Multiple endocrine neoplasia
Variation info
Gene RET
CLNDBN No MEN2 disease not specified Multiple endocrine neoplasia Hirschsprung Disease, Dominant Pheochromocytoma Renal adysplasia Multiple endocrine neoplasia, type 2
Reversed 0
HGVS NC_000010.10:g.43615094C>T
CLNSRC ClinVar GeneDx
CLNACC RCV000021860.1, RCV000151741.4, RCV000203081.2, RCV000264509.1, RCV000327711.1, RCV000359214.1, RCV000463335.1,



[PMID 19138047OA-icon.png] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.


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


[PMID 10022819] Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation.


[PMID 28946813] Nationwide French study of RET variants detected from 2003 to 2013 suggests a possible influence of polymorphisms as modifiers.