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rs77558292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs77558292(C;C)
Make rs77558292(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position43113621
GeneRET
is asnp
is mentioned by
dbSNPrs77558292
ebirs77558292
HLIrs77558292
Exacrs77558292
Varsomers77558292
Maprs77558292
PheGenIrs77558292
hapmaprs77558292
1000 genomesrs77558292
hgdprs77558292
ensemblrs77558292
gopubmedrs77558292
geneviewrs77558292
scholarrs77558292
googlers77558292
pharmgkbrs77558292
gwascentralrs77558292
openSNPrs77558292
23andMers77558292
23andMe allrs77558292
SNP Nexus

SNPshotrs77558292
SNPdbers77558292
MSV3drs77558292
GWAS Ctlgrs77558292
Max Magnitude0
OMIM164761
Desc
Variant0042
Relatedalso
ClinVar
Risk rs77558292(A,C,G;A,C,G)
Alt rs77558292(A,C,G;A,C,G)
Reference rs77558292(T;T)
Significance Pathogenic
Disease MEN2 phenotype: Unknown Familial medullary thyroid carcinoma MEN2A and FMTC Multiple endocrine neoplasia
Variation info
Gene RET
CLNDBN MEN2 phenotype: Unknown Familial medullary thyroid carcinoma MEN2A and FMTC Multiple endocrine neoplasia, type 2a
Reversed 0
HGVS NC_000010.10:g.43609069T>A; NC_000010.10:g.43609069T>C; NC_000010.10:g.43609069T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000021775.1, RCV000014971.25, RCV000021776.1, RCV000021777.1,


[PMID 10982477] Familial form of hirschsprung disease: nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes. [PMID 11955539] Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.


[PMID 8626834] Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group.