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rs75234356

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs75234356(G;G)
Make rs75234356(G;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position43120144
GeneRET
is asnp
is mentioned by
dbSNPrs75234356
dbSNP (classic)rs75234356
ClinGenrs75234356
ebirs75234356
HLIrs75234356
Exacrs75234356
Gnomadrs75234356
Varsomers75234356
LitVarrs75234356
Maprs75234356
PheGenIrs75234356
Biobankrs75234356
1000 genomesrs75234356
hgdprs75234356
ensemblrs75234356
geneviewrs75234356
scholarrs75234356
googlers75234356
pharmgkbrs75234356
gwascentralrs75234356
openSNPrs75234356
23andMers75234356
SNPshotrs75234356
SNPdbers75234356
MSV3drs75234356
GWAS Ctlgrs75234356
Max Magnitude0
OMIM164761
Desc
Variant0049
Relatedalso
ClinVar
Risk rs75234356(G;G)
Alt rs75234356(G;G)
Reference Rs75234356(T;T)
Significance Other
Disease Multiple endocrine neoplasia Familial medullary thyroid carcinoma MEN2A and FMTC Multiple endocrine neoplasia IIA Multiple endocrine neoplasia not provided Multiple endocrine neoplasia Multiple endocrine neoplasia Multiple endocrine neoplasia Medullary thyroid carcinoma
Variation info
Gene RET
CLNDBN Multiple endocrine neoplasia, type 2a Familial medullary thyroid carcinoma MEN2A and FMTC Multiple endocrine neoplasia IIA Multiple endocrine neoplasia, type 2 not provided Multiple endocrine neoplasia, type 2b Multiple endocrine neoplasia, type 4 Multiple endocrine neoplasia, type 1 Medullary thyroid carcinoma
Reversed 0
HGVS NC_000010.10:g.43615592T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014978.26, RCV000014979.26, RCV000021875.1, RCV000193761.1, RCV000227193.2, RCV000394478.1, RCV000425892.1, RCV000431535.1, RCV000441854.1, RCV000445273.1,


[PMID 10024437] A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy.