rs75076352

plus

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

Make rs75076352(G;G)

Make rs75076352(G;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

43114500

Gene

RET

is a	snp
is	mentioned by
dbSNP	rs75076352
dbSNP (classic)	rs75076352
ClinGen	rs75076352
ebi	rs75076352
HLI	rs75076352
Exac	rs75076352
Gnomad	rs75076352
Varsome	rs75076352
LitVar	rs75076352
Map	rs75076352
PheGenI	rs75076352
Biobank	rs75076352
1000 genomes	rs75076352
hgdp	rs75076352
ensembl	rs75076352
geneview	rs75076352
scholar	rs75076352
google	rs75076352
pharmgkb	rs75076352
gwascentral	rs75076352
openSNP	rs75076352
23andMe	rs75076352
SNPshot	rs75076352
SNPdbe	rs75076352
MSV3d	rs75076352
GWAS Ctlg	rs75076352

Max Magnitude

0

OMIM	164761
Desc
Variant	0011
Related	also

ClinVar
Risk	rs75076352(A;A) rs75076352(C;C) rs75076352(G;G)
Alt	rs75076352(A;A) rs75076352(C;C) rs75076352(G;G)
Reference	Rs75076352(T;T)
Significance	Other
Disease	MEN2A and Unclassified Multiple endocrine neoplasia Pheochromocytoma MEN2A and FMTC not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Medullary thyroid carcinoma Multiple endocrine neoplasia Multiple endocrine neoplasia
Variation	info
Gene	RET
CLNDBN	MEN2A and Unclassified Multiple endocrine neoplasia, type 2a Pheochromocytoma MEN2A and FMTC not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 4 Medullary thyroid carcinoma Multiple endocrine neoplasia, type 1 Multiple endocrine neoplasia, type 2b
Reversed	0
HGVS	NC_000010.10:g.43609948T>A; NC_000010.10:g.43609948T>C; NC_000010.10:g.43609948T>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000021820.1, RCV000014920.25, RCV000014937.27, RCV000014938.25, RCV000021821.1, RCV000082051.7, RCV000163338.2, RCV000420446.1, RCV000420995.1, RCV000430685.1, RCV000431794.1, RCV000014922.26, RCV000014923.26, RCV000021822.1, RCV000182581.2,

[PMID 3078962] Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains.

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

[PMID 8825918 ] Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.

[PMID 9111993] A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis.

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

[PMID 2904651] Cushing's syndrome due to ectopic ACTH secretion by bilateral pheochromocytomas in multiple endocrine neoplasia type 2A.

[PMID 3078962] Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains.

[PMID 7849700] Haplotype analysis of MEN 2 mutations.

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

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