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rs79658334

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs79658334(A;A)
Make rs79658334(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position43119548
GeneRET
is asnp
is mentioned by
dbSNPrs79658334
ebirs79658334
HLIrs79658334
Exacrs79658334
Varsomers79658334
Maprs79658334
PheGenIrs79658334
hapmaprs79658334
1000 genomesrs79658334
hgdprs79658334
ensemblrs79658334
gopubmedrs79658334
geneviewrs79658334
scholarrs79658334
googlers79658334
pharmgkbrs79658334
gwascentralrs79658334
openSNPrs79658334
23andMers79658334
23andMe allrs79658334
SNP Nexus

SNPshotrs79658334
SNPdbers79658334
MSV3drs79658334
GWAS Ctlgrs79658334
Max Magnitude0
OMIM164761
Desc
Variant0043
Relatedalso
ClinVar
Risk rs79658334(A,C,T;A,C,T)
Alt rs79658334(A,C,T;A,C,T)
Reference rs79658334(G;G)
Significance Pathogenic
Disease Multiple endocrine neoplasia MEN2A and FMTC Multiple endocrine neoplasia not provided Hereditary cancer-predisposing syndrome MEN2 phenotype: Unclassified Familial medullary thyroid carcinoma
Variation info
Gene RET
CLNDBN Multiple endocrine neoplasia, type 2b MEN2A and FMTC Multiple endocrine neoplasia, type 2 not provided Hereditary cancer-predisposing syndrome MEN2 phenotype: Unclassified Familial medullary thyroid carcinoma
Reversed 0
HGVS NC_000010.10:g.43614996G>A; NC_000010.10:g.43614996G>C; NC_000010.10:g.43614996G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014972.25, RCV000021852.1, RCV000148773.2, RCV000182584.2, RCV000210181.1, RCV000021853.1, RCV000014973.25, RCV000021854.1,


[PMID 11589684] Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population.


[PMID 12694233] Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer.


[PMID 15741265] Germline homozygous mutations at codon 804 in the RET protooncogene in medullary thyroid carcinoma/multiple endocrine neoplasia type 2A patients.