rs78014899

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs78014899(A;A)

Make rs78014899(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

43118392

Gene

RET

is a	snp
is	mentioned by
dbSNP	rs78014899
dbSNP (classic)	rs78014899
ClinGen	rs78014899
ebi	rs78014899
HLI	rs78014899
Exac	rs78014899
Gnomad	rs78014899
Varsome	rs78014899
LitVar	rs78014899
Map	rs78014899
PheGenI	rs78014899
Biobank	rs78014899
1000 genomes	rs78014899
hgdp	rs78014899
ensembl	rs78014899
geneview	rs78014899
scholar	rs78014899
google	rs78014899
pharmgkb	rs78014899
gwascentral	rs78014899
openSNP	rs78014899
23andMe	rs78014899
SNPshot	rs78014899
SNPdbe	rs78014899
MSV3d	rs78014899
GWAS Ctlg	rs78014899

Max Magnitude

0

OMIM	164761
Desc
Variant	0027
Related	also

ClinVar
Risk	rs78014899(A;A) rs78014899(C;C) rs78014899(T;T)
Alt	rs78014899(A;A) rs78014899(C;C) rs78014899(T;T)
Reference	Rs78014899(G;G)
Significance	Pathogenic
Disease	Familial medullary thyroid carcinoma MEN2A and FMTC Medullary thyroid carcinoma Multiple endocrine neoplasia Neoplasm Multiple endocrine neoplasia Multiple endocrine neoplasia Multiple endocrine neoplasia MEN2 phenotype: Unclassified
Variation	info
Gene	RET
CLNDBN	Familial medullary thyroid carcinoma MEN2A and FMTC Medullary thyroid carcinoma Multiple endocrine neoplasia, type 2b Neoplasm Multiple endocrine neoplasia, type 2a Multiple endocrine neoplasia, type 4 Multiple endocrine neoplasia, type 1 MEN2 phenotype: Unclassified
Reversed	0
HGVS	NC_000010.10:g.43613840G>C; NC_000010.10:g.43613840G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014956.26, RCV000021842.1, RCV000421871.1, RCV000426010.1, RCV000431893.1, RCV000432579.1, RCV000439063.1, RCV000445341.1, RCV000032037.1, RCV000410061.1, RCV000411546.1,

[PMID 9111992] Mutation of RET codon 768 is associated with the FMTC phenotype.

[PMID 12116277] A novel germline point mutation, c.2304 G-->T, in codon 768 of the RET proto-oncogene in a patient with medullary thyroid carcinoma. [PMID 11230481] Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients.