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rs78935588

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs78935588(C;G)
Make rs78935588(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position43114519
GeneRET
is asnp
is mentioned by
dbSNPrs78935588
ebirs78935588
HLIrs78935588
Exacrs78935588
Varsomers78935588
Maprs78935588
PheGenIrs78935588
hapmaprs78935588
1000 genomesrs78935588
hgdprs78935588
ensemblrs78935588
gopubmedrs78935588
geneviewrs78935588
scholarrs78935588
googlers78935588
pharmgkbrs78935588
gwascentralrs78935588
openSNPrs78935588
23andMers78935588
23andMe allrs78935588
SNP Nexus

SNPshotrs78935588
SNPdbers78935588
MSV3drs78935588
GWAS Ctlgrs78935588
Max Magnitude0
OMIM164761
Desc
Variant0040
Relatedalso
ClinVar
Risk rs78935588(G;G)
Alt rs78935588(G;G)
Reference rs78935588(C;C)
Significance Pathogenic
Disease Multiple endocrine neoplasia MEN2 phenotype: Unknown
Variation info
Gene RET
CLNDBN Multiple endocrine neoplasia, type 2a MEN2 phenotype: Unknown
Reversed 0
HGVS NC_000010.10:g.43609967C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014969.25, RCV000021832.1,


[PMID 10522989] A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene.