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rs77316810

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs77316810(C;C)
Make rs77316810(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position43113654
GeneRET
is asnp
is mentioned by
dbSNPrs77316810
ebirs77316810
HLIrs77316810
Exacrs77316810
Varsomers77316810
Maprs77316810
PheGenIrs77316810
hapmaprs77316810
1000 genomesrs77316810
hgdprs77316810
ensemblrs77316810
gopubmedrs77316810
geneviewrs77316810
scholarrs77316810
googlers77316810
pharmgkbrs77316810
gwascentralrs77316810
openSNPrs77316810
23andMers77316810
23andMe allrs77316810
SNP Nexus

SNPshotrs77316810
SNPdbers77316810
MSV3drs77316810
GWAS Ctlgrs77316810
Max Magnitude0
OMIM164761
Desc
Variant0009
Relatedalso
ClinVar
Risk rs77316810(A,C,G;A,C,G)
Alt rs77316810(A,C,G;A,C,G)
Reference rs77316810(T;T)
Significance Pathogenic
Disease MEN2A and Unclassified Multiple endocrine neoplasia MEN2A and FMTC not provided Multiple endocrine neoplasia
Variation info
Gene RET
CLNDBN MEN2A and Unclassified Multiple endocrine neoplasia, type 2a MEN2A and FMTC not provided Multiple endocrine neoplasia, type 2
Reversed 0
HGVS NC_000010.10:g.43609102T>A; NC_000010.10:g.43609102T>C; NC_000010.10:g.43609102T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000021798.1, RCV000014935.24, RCV000021799.1, RCV000182580.2, RCV000232285.1, RCV000021800.1, RCV000182595.1,


[PMID 10777380] Unilateral renal agenesis in a family with medullary thyroid carcinoma. [PMID 7849720] RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer.


[PMID 9223675] Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC.