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rs146646971

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 5.1 Multiple Endocrine Neoplasia IIA
(G;G) 0 common in clinvar
Make rs146646971(G;T)
Make rs146646971(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position43114598
GeneRET
is asnp
is mentioned by
dbSNPrs146646971
dbSNP (classic)rs146646971
ClinGenrs146646971
ebirs146646971
HLIrs146646971
Exacrs146646971
Gnomadrs146646971
Varsomers146646971
LitVarrs146646971
Maprs146646971
PheGenIrs146646971
Biobankrs146646971
1000 genomesrs146646971
hgdprs146646971
ensemblrs146646971
geneviewrs146646971
scholarrs146646971
googlers146646971
pharmgkbrs146646971
gwascentralrs146646971
openSNPrs146646971
23andMers146646971
SNPshotrs146646971
SNPdbers146646971
MSV3drs146646971
GWAS Ctlgrs146646971
Max Magnitude5.1
ClinVar
Risk rs146646971(C;C) rs146646971(T;T)
Alt rs146646971(C;C) rs146646971(T;T)
Reference Rs146646971(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome MEN2 phenotype: Unknown not provided Medullary thyroid carcinoma Multiple endocrine neoplasia Multiple endocrine neoplasia
Variation info
Gene RET
CLNDBN Hereditary cancer-predisposing syndrome MEN2 phenotype: Unknown not provided Medullary thyroid carcinoma Multiple endocrine neoplasia, type 2a Multiple endocrine neoplasia, type 2
Reversed 0
HGVS NC_000010.10:g.43610046G>C; NC_000010.10:g.43610046G>T
CLNSRC HGMD
CLNACC RCV000219014.1, RCV000021839.1, RCV000082052.4, RCV000148772.1, RCV000174156.1, RCV000467461.1,