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rs79781594

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs79781594(C;C)
Make rs79781594(C;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position43113649
GeneRET
is asnp
is mentioned by
dbSNPrs79781594
ebirs79781594
HLIrs79781594
Exacrs79781594
Varsomers79781594
Maprs79781594
PheGenIrs79781594
hapmaprs79781594
1000 genomesrs79781594
hgdprs79781594
ensemblrs79781594
gopubmedrs79781594
geneviewrs79781594
scholarrs79781594
googlers79781594
pharmgkbrs79781594
gwascentralrs79781594
openSNPrs79781594
23andMers79781594
23andMe allrs79781594
SNP Nexus

SNPshotrs79781594
SNPdbers79781594
MSV3drs79781594
GWAS Ctlgrs79781594
Max Magnitude0
OMIM164761
Desc
Variant0008
Relatedalso
ClinVar
Risk rs79781594(A,C,T;A,C,T)
Alt rs79781594(A,C,T;A,C,T)
Reference rs79781594(G;G)
Significance Pathogenic
Disease MEN2A and FMTC Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Familial medullary thyroid carcinoma not provided Multiple endocrine neoplasia
Variation info
Gene RET
CLNDBN MEN2A and FMTC Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2a Familial medullary thyroid carcinoma not provided Multiple endocrine neoplasia, type 2
Reversed 0
HGVS NC_000010.10:g.43609097G>A; NC_000010.10:g.43609097G>C; NC_000010.10:g.43609097G>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000021794.1, RCV000163667.1, RCV000014933.25, RCV000014934.25, RCV000021791.1, RCV000082050.5, RCV000161938.2, RCV000021795.1,


[PMID 8103403] Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.


[PMID 7916559OA-icon.png] Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A.