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rs2075912

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs2075912(C;C)
Make rs2075912(C;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position43126769
GeneRET
is asnp
is mentioned by
dbSNPrs2075912
ebirs2075912
HLIrs2075912
Exacrs2075912
Varsomers2075912
Maprs2075912
PheGenIrs2075912
hapmaprs2075912
1000 genomesrs2075912
hgdprs2075912
ensemblrs2075912
gopubmedrs2075912
geneviewrs2075912
scholarrs2075912
googlers2075912
pharmgkbrs2075912
gwascentralrs2075912
openSNPrs2075912
23andMers2075912
23andMe allrs2075912
SNP Nexus

SNPshotrs2075912
SNPdbers2075912
MSV3drs2075912
GWAS Ctlgrs2075912
GMAF0.2392
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[PMID 20454948] Association analysis of the RET proto-oncogene with Hirschsprung disease in the Han Chinese population of southeastern China


ClinVar
Risk rs2075912(C;C)
Alt rs2075912(C;C)
Reference rs2075912(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene RET
CLNDBN not specified
Reversed 0
HGVS NC_000010.10:g.43622217T>C
CLNSRC
CLNACC RCV000151742.1,



[PMID 27798940] Rare RET Variant p.D707E in a Chinese Pedigree with Hereditary Medullary Thyroid Carcinoma.