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rs80069458

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80069458(C;G)
Make rs80069458(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position43113629
GeneRET
is asnp
is mentioned by
dbSNPrs80069458
ebirs80069458
HLIrs80069458
Exacrs80069458
Varsomers80069458
Maprs80069458
PheGenIrs80069458
hapmaprs80069458
1000 genomesrs80069458
hgdprs80069458
ensemblrs80069458
gopubmedrs80069458
geneviewrs80069458
scholarrs80069458
googlers80069458
pharmgkbrs80069458
gwascentralrs80069458
openSNPrs80069458
23andMers80069458
23andMe allrs80069458
SNP Nexus

SNPshotrs80069458
SNPdbers80069458
MSV3drs80069458
GWAS Ctlgrs80069458
Max Magnitude0
OMIM164761
Desc
Variant0007
Relatedalso
ClinVar
Risk rs80069458(G;G)
Alt rs80069458(G;G)
Reference rs80069458(C;C)
Significance Pathogenic
Disease Multiple endocrine neoplasia MEN2A and FMTC
Variation info
Gene RET
CLNDBN Multiple endocrine neoplasia, type 2a MEN2A and FMTC
Reversed 0
HGVS NC_000010.10:g.43609077C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014932.25, RCV000021788.1,


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