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rs75996173

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs75996173(A;A)
Make rs75996173(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position43114501
GeneRET
is asnp
is mentioned by
dbSNPrs75996173
ebirs75996173
HLIrs75996173
Exacrs75996173
Varsomers75996173
Maprs75996173
PheGenIrs75996173
hapmaprs75996173
1000 genomesrs75996173
hgdprs75996173
ensemblrs75996173
gopubmedrs75996173
geneviewrs75996173
scholarrs75996173
googlers75996173
pharmgkbrs75996173
gwascentralrs75996173
openSNPrs75996173
23andMers75996173
23andMe allrs75996173
SNP Nexus

SNPshotrs75996173
SNPdbers75996173
MSV3drs75996173
GWAS Ctlgrs75996173
Max Magnitude0
OMIM164761
Desc
Variant0004
Relatedalso
ClinVar
Risk rs75996173(A,C,T;A,C,T)
Alt rs75996173(A,C,T;A,C,T)
Reference rs75996173(G;G)
Significance Pathogenic
Disease Multiple endocrine neoplasia Pheochromocytoma MEN2A and FMTC Hereditary cancer-predisposing syndrome not provided Familial medullary thyroid carcinoma
Variation info
Gene RET
CLNDBN Multiple endocrine neoplasia, type 2a Pheochromocytoma MEN2A and FMTC Hereditary cancer-predisposing syndrome not provided Familial medullary thyroid carcinoma
Reversed 0
HGVS NC_000010.10:g.43609949G>A; NC_000010.10:g.43609949G>C; NC_000010.10:g.43609949G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014924.21, RCV000014925.25, RCV000021823.1, RCV000129490.2, RCV000182582.1, RCV000014926.25, RCV000014927.25, RCV000021824.1, RCV000014928.21, RCV000014929.21, RCV000014930.21, RCV000021825.1,


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


[PMID 7824936] Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B.


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


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