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rs78347871

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs78347871(C;C)
Make rs78347871(C;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position43121950
GeneRET
is asnp
is mentioned by
dbSNPrs78347871
ebirs78347871
HLIrs78347871
Exacrs78347871
Varsomers78347871
Maprs78347871
PheGenIrs78347871
hapmaprs78347871
1000 genomesrs78347871
hgdprs78347871
ensemblrs78347871
gopubmedrs78347871
geneviewrs78347871
scholarrs78347871
googlers78347871
pharmgkbrs78347871
gwascentralrs78347871
openSNPrs78347871
23andMers78347871
23andMe allrs78347871
SNP Nexus

SNPshotrs78347871
SNPdbers78347871
MSV3drs78347871
GWAS Ctlgrs78347871
Max Magnitude0
OMIM164761
Desc
Variant0051
Relatedalso
ClinVar
Risk rs78347871(A,C,T;A,C,T)
Alt rs78347871(A,C,T;A,C,T)
Reference rs78347871(G;G)
Significance Pathogenic
Disease MEN2 phenotype: Unknown Familial medullary thyroid carcinoma MEN2 phenotype: Unclassified
Variation info
Gene RET
CLNDBN MEN2 phenotype: Unknown Familial medullary thyroid carcinoma MEN2 phenotype: Unclassified
Reversed 0
HGVS NC_000010.10:g.43617398G>A; NC_000010.10:g.43617398G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000021882.1, RCV000014981.21, RCV000021883.1,


[PMID 15240641] A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma. [PMID 11955539] Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.