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rs78014899

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs78014899(A;A)
Make rs78014899(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position43118392
GeneRET
is asnp
is mentioned by
dbSNPrs78014899
ebirs78014899
HLIrs78014899
Exacrs78014899
Varsomers78014899
Maprs78014899
PheGenIrs78014899
hapmaprs78014899
1000 genomesrs78014899
hgdprs78014899
ensemblrs78014899
gopubmedrs78014899
geneviewrs78014899
scholarrs78014899
googlers78014899
pharmgkbrs78014899
gwascentralrs78014899
openSNPrs78014899
23andMers78014899
23andMe allrs78014899
SNP Nexus

SNPshotrs78014899
SNPdbers78014899
MSV3drs78014899
GWAS Ctlgrs78014899
Max Magnitude0
OMIM164761
Desc
Variant0027
Relatedalso
ClinVar
Risk rs78014899(A,C,T;A,C,T)
Alt rs78014899(A,C,T;A,C,T)
Reference rs78014899(G;G)
Significance Pathogenic
Disease Familial medullary thyroid carcinoma MEN2A and FMTC MEN2 phenotype: Unclassified
Variation info
Gene RET
CLNDBN Familial medullary thyroid carcinoma MEN2A and FMTC MEN2 phenotype: Unclassified
Reversed 0
HGVS NC_000010.10:g.43613840G>C; NC_000010.10:g.43613840G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014956.25, RCV000021842.1, RCV000032037.1,


[PMID 9111992] Mutation of RET codon 768 is associated with the FMTC phenotype.


[PMID 12116277] A novel germline point mutation, c.2304 G-->T, in codon 768 of the RET proto-oncogene in a patient with medullary thyroid carcinoma. [PMID 11230481] Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients.