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rs76262710

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs76262710(C;C)
Make rs76262710(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position43113648
GeneRET
is asnp
is mentioned by
dbSNPrs76262710
ebirs76262710
HLIrs76262710
Exacrs76262710
Varsomers76262710
Maprs76262710
PheGenIrs76262710
hapmaprs76262710
1000 genomesrs76262710
hgdprs76262710
ensemblrs76262710
gopubmedrs76262710
geneviewrs76262710
scholarrs76262710
googlers76262710
pharmgkbrs76262710
gwascentralrs76262710
openSNPrs76262710
23andMers76262710
23andMe allrs76262710
SNP Nexus

SNPshotrs76262710
SNPdbers76262710
MSV3drs76262710
GWAS Ctlgrs76262710
Max Magnitude0
OMIM164761
Desc
Variant0001
Relatedalso
OMIM164761
Desc
Variant0025
Relatedalso
ClinVar
Risk rs76262710(A,C,G;A,C,G)
Alt rs76262710(A,C,G;A,C,G)
Reference rs76262710(T;T)
Significance Pathogenic
Disease MEN2A and FMTC not provided Familial medullary thyroid carcinoma Multiple endocrine neoplasia MEN2A and Unclassified Multiple endocrine neoplasia
Variation info
Gene RET
CLNDBN MEN2A and FMTC not provided Familial medullary thyroid carcinoma Multiple endocrine neoplasia, type 2a MEN2A and Unclassified Multiple endocrine neoplasia, type 2
Reversed 0
HGVS NC_000010.10:g.43609096T>A; NC_000010.10:g.43609096T>C; NC_000010.10:g.43609096T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032040.1, RCV000182594.1, RCV000014954.26, RCV000021792.1, RCV000114391.2, RCV000014919.21, RCV000021793.1, RCV000228834.1,


[PMID 3078962] Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains.


[PMID 7907913] Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. [PMID 8103403] Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.