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rs77709286

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs77709286(C;G)
Make rs77709286(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position43114502
GeneRET
is asnp
is mentioned by
dbSNPrs77709286
ebirs77709286
HLIrs77709286
Exacrs77709286
Varsomers77709286
Maprs77709286
PheGenIrs77709286
hapmaprs77709286
1000 genomesrs77709286
hgdprs77709286
ensemblrs77709286
gopubmedrs77709286
geneviewrs77709286
scholarrs77709286
googlers77709286
pharmgkbrs77709286
gwascentralrs77709286
openSNPrs77709286
23andMers77709286
23andMe allrs77709286
SNP Nexus

SNPshotrs77709286
SNPdbers77709286
MSV3drs77709286
GWAS Ctlgrs77709286
Max Magnitude0
OMIM164761
Desc
Variant0012
Relatedalso
ClinVar
Risk rs77709286(G;G)
Alt rs77709286(G;G)
Reference rs77709286(C;C)
Significance Pathogenic
Disease Multiple endocrine neoplasia Pheochromocytoma MEN2A and FMTC
Variation info
Gene RET
CLNDBN Multiple endocrine neoplasia, type 2a Pheochromocytoma MEN2A and FMTC
Reversed 0
HGVS NC_000010.10:g.43609950C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014939.21, RCV000014940.25, RCV000021827.1,


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


[PMID 12000816] Germ-line mutations in nonsyndromic pheochromocytoma.