rs79658334

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;G)	5.1	Multiple Endocrine Neoplasia IIA
(G;G)	0	common in clinvar
(G;T)	5.1	Multiple Endocrine Neoplasia IIA

Make rs79658334(A;A)

Make rs79658334(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

43119548

Gene

RET

is a	snp
is	mentioned by
dbSNP	rs79658334
dbSNP (classic)	rs79658334
ClinGen	rs79658334
ebi	rs79658334
HLI	rs79658334
Exac	rs79658334
Gnomad	rs79658334
Varsome	rs79658334
LitVar	rs79658334
Map	rs79658334
PheGenI	rs79658334
Biobank	rs79658334
1000 genomes	rs79658334
hgdp	rs79658334
ensembl	rs79658334
geneview	rs79658334
scholar	rs79658334
google	rs79658334
pharmgkb	rs79658334
gwascentral	rs79658334
openSNP	rs79658334
23andMe	rs79658334
SNPshot	rs79658334
SNPdbe	rs79658334
MSV3d	rs79658334
GWAS Ctlg	rs79658334

Max Magnitude

5.1

OMIM	164761
Desc
Variant	0043
Related	also

ClinVar
Risk	rs79658334(A;A) rs79658334(C;C) rs79658334(T;T)
Alt	rs79658334(A;A) rs79658334(C;C) rs79658334(T;T)
Reference	Rs79658334(G;G)
Significance	Pathogenic
Disease	Multiple endocrine neoplasia MEN2A and FMTC Multiple endocrine neoplasia not provided Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma MEN2 phenotype: Unclassified Multiple endocrine neoplasia Multiple endocrine neoplasia Medullary thyroid carcinoma Multiple endocrine neoplasia Multiple endocrine neoplasia
Variation	info
Gene	RET
CLNDBN	Multiple endocrine neoplasia, type 2b MEN2A and FMTC Multiple endocrine neoplasia, type 2 not provided Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma MEN2 phenotype: Unclassified Multiple endocrine neoplasia, type 1 Multiple endocrine neoplasia, type 2a Medullary thyroid carcinoma Multiple endocrine neoplasia, type 4 Multiple endocrine neoplasia
Reversed	0
HGVS	NC_000010.10:g.43614996G>A; NC_000010.10:g.43614996G>C; NC_000010.10:g.43614996G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014972.26, RCV000021852.1, RCV000148773.3, RCV000182584.4, RCV000210181.1, RCV000268357.1, RCV000021853.1, RCV000419916.1, RCV000425568.1, RCV000426266.1, RCV000436948.1, RCV000437130.1, RCV000479688.1, RCV000014973.26, RCV000021854.1, RCV000354366.1, RCV000487450.1,

[PMID 11589684] Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population.

[PMID 12694233] Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer.

[PMID 15741265] Germline homozygous mutations at codon 804 in the RET protooncogene in medullary thyroid carcinoma/multiple endocrine neoplasia type 2A patients.