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rs75873440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs75873440(G;T)
Make rs75873440(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position43112173
GeneRET
is asnp
is mentioned by
dbSNPrs75873440
ebirs75873440
HLIrs75873440
Exacrs75873440
Varsomers75873440
Maprs75873440
PheGenIrs75873440
hapmaprs75873440
1000 genomesrs75873440
hgdprs75873440
ensemblrs75873440
gopubmedrs75873440
geneviewrs75873440
scholarrs75873440
googlers75873440
pharmgkbrs75873440
gwascentralrs75873440
openSNPrs75873440
23andMers75873440
23andMe allrs75873440
SNP Nexus

SNPshotrs75873440
SNPdbers75873440
MSV3drs75873440
GWAS Ctlgrs75873440
Max Magnitude0
OMIM164761
Desc
Variant0048
Relatedalso
ClinVar
Risk rs75873440(A,T;A,T)
Alt rs75873440(A,T;A,T)
Reference rs75873440(G;G)
Significance Pathogenic
Disease MEN2 phenotype: Unknown Familial medullary thyroid carcinoma MEN2A and FMTC not provided
Variation info
Gene RET
CLNDBN MEN2 phenotype: Unknown 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, RCV000014977.21, RCV000021770.1, RCV000182579.2,


[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.