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rs1800861

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1800861(A;A)
Make rs1800861(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position43118395
GeneRET
is asnp
is mentioned by
dbSNPrs1800861
ClinGenrs1800861
ebirs1800861
HLIrs1800861
Exacrs1800861
Varsomers1800861
Maprs1800861
PheGenIrs1800861
hapmaprs1800861
1000 genomesrs1800861
hgdprs1800861
ensemblrs1800861
gopubmedrs1800861
geneviewrs1800861
scholarrs1800861
googlers1800861
pharmgkbrs1800861
gwascentralrs1800861
openSNPrs1800861
23andMers1800861
23andMe allrs1800861
SNP Nexus

SNPshotrs1800861
SNPdbers1800861
MSV3drs1800861
GWAS Ctlgrs1800861
GMAF0.2773
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 rs1800861(A;A)
Alt rs1800861(A;A)
Reference Rs1800861(C;C)
Significance Non-pathogenic
Disease No MEN2 disease not provided not specified Multiple endocrine neoplasia
Variation info
Gene RET
CLNDBN No MEN2 disease not provided not specified Multiple endocrine neoplasia, type 2
Reversed 1
HGVS NC_000010.10:g.43613843G\x3d; NC_000010.10:g.43613843G>T
CLNSRC HGMD
CLNACC RCV000021844.1, RCV000127779.1, RCV000154625.1, RCV000203706.1, RCV000153835.3,



[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 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.


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


[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.


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


[PMID 8084609] DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.


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