rs75873440

Orientation

plus

Stabilized

plus

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

Make rs75873440(G;T)

Make rs75873440(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

43112173

Gene

RET

is a	snp
is	mentioned by
dbSNP	rs75873440
dbSNP (classic)	rs75873440
ClinGen	rs75873440
ebi	rs75873440
HLI	rs75873440
Exac	rs75873440
Gnomad	rs75873440
Varsome	rs75873440
LitVar	rs75873440
Map	rs75873440
PheGenI	rs75873440
Biobank	rs75873440
1000 genomes	rs75873440
hgdp	rs75873440
ensembl	rs75873440
geneview	rs75873440
scholar	rs75873440
google	rs75873440
pharmgkb	rs75873440
gwascentral	rs75873440
openSNP	rs75873440
23andMe	rs75873440
SNPshot	rs75873440
SNPdbe	rs75873440
MSV3d	rs75873440
GWAS Ctlg	rs75873440

Max Magnitude

0

OMIM	164761
Desc
Variant	0048
Related	also

ClinVar
Risk	rs75873440(A;A) rs75873440(T;T)
Alt	rs75873440(A;A) rs75873440(T;T)
Reference	Rs75873440(G;G)
Significance	Pathogenic
Disease	MEN2 phenotype: Unknown Multiple endocrine neoplasia Multiple endocrine neoplasia Multiple endocrine neoplasia Familial medullary thyroid carcinoma MEN2A and FMTC not provided
Variation	info
Gene	RET
CLNDBN	MEN2 phenotype: Unknown Multiple endocrine neoplasia, type 2b Multiple endocrine neoplasia, type 2a Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma MEN2A and FMTC not provided
Reversed	0
HGVS	NC_000010.10:g.43607621G>A; NC_000010.10:g.43607621G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000021768.1, RCV000409959.1, RCV000411509.1, RCV000465806.1, RCV000014977.22, RCV000021770.1, RCV000182579.3, RCV000469127.1,

[PMID 14602786] A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma. [PMID 17009072] Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients.