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rs75030001

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs75030001(C;C)
Make rs75030001(C;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position43118458
GeneRET
is asnp
is mentioned by
dbSNPrs75030001
ebirs75030001
HLIrs75030001
Exacrs75030001
Varsomers75030001
Maprs75030001
PheGenIrs75030001
hapmaprs75030001
1000 genomesrs75030001
hgdprs75030001
ensemblrs75030001
gopubmedrs75030001
geneviewrs75030001
scholarrs75030001
googlers75030001
pharmgkbrs75030001
gwascentralrs75030001
openSNPrs75030001
23andMers75030001
23andMe allrs75030001
SNP Nexus

SNPshotrs75030001
SNPdbers75030001
MSV3drs75030001
GWAS Ctlgrs75030001
Max Magnitude0
OMIM164761
Desc
Variant0033
Relatedalso
ClinVar
Risk rs75030001(C,T;C,T)
Alt rs75030001(C,T;C,T)
Reference rs75030001(G;G)
Significance Pathogenic
Disease Multiple endocrine neoplasia Familial medullary thyroid carcinoma MEN2A and FMTC not provided Hereditary cancer-predisposing syndrome
Variation info
Gene RET
CLNDBN Multiple endocrine neoplasia, type 2a Familial medullary thyroid carcinoma MEN2A and FMTC not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000010.10:g.43613906G>C; NC_000010.10:g.43613906G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014960.21, RCV000014961.21, RCV000021849.1, RCV000182583.1, RCV000032038.1, RCV000163610.1,


[PMID 9506724] A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A.