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rs77939446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs77939446(A;A)
Make rs77939446(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position43113622
GeneRET
is asnp
is mentioned by
dbSNPrs77939446
ebirs77939446
HLIrs77939446
Exacrs77939446
Varsomers77939446
Maprs77939446
PheGenIrs77939446
hapmaprs77939446
1000 genomesrs77939446
hgdprs77939446
ensemblrs77939446
gopubmedrs77939446
geneviewrs77939446
scholarrs77939446
googlers77939446
pharmgkbrs77939446
gwascentralrs77939446
openSNPrs77939446
23andMers77939446
23andMe allrs77939446
SNP Nexus

SNPshotrs77939446
SNPdbers77939446
MSV3drs77939446
GWAS Ctlgrs77939446
Max Magnitude0
OMIM164761
Desc
Variant0029
Relatedalso
ClinVar
Risk rs77939446(A,C,T;A,C,T)
Alt rs77939446(A,C,T;A,C,T)
Reference rs77939446(G;G)
Significance Pathogenic
Disease MULTIPLE ENDOCRINE NEOPLASIA MEN2A and FMTC not provided Multiple endocrine neoplasia Multiple endocrine neoplasia MEN2A and Unclassified
Variation info
Gene RET
CLNDBN MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE MEN2A and FMTC not provided Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia, type 2a MEN2A and Unclassified
Reversed 0
HGVS NC_000010.10:g.43609070G>A; NC_000010.10:g.43609070G>C; NC_000010.10:g.43609070G>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000014958.25, RCV000021778.1, RCV000082049.4, RCV000168107.2, RCV000173889.1, RCV000021779.1, RCV000021780.1,


[PMID 11524247] Molecular genetic diagnostic program of multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma syndromes in Hungary.


[PMID 9068588] Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma.