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rs1800863

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs1800863(C;G)
Make rs1800863(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position43120185
GeneRET
is asnp
is mentioned by
dbSNPrs1800863
dbSNP (old)rs1800863
ClinGenrs1800863
ebirs1800863
HLIrs1800863
Exacrs1800863
Varsomers1800863
Maprs1800863
PheGenIrs1800863
Biobankrs1800863
1000 genomesrs1800863
hgdprs1800863
ensemblrs1800863
gopubmedrs1800863
geneviewrs1800863
scholarrs1800863
googlers1800863
pharmgkbrs1800863
gwascentralrs1800863
openSNPrs1800863
23andMers1800863
23andMe allrs1800863
SNP Nexus

SNPshotrs1800863
SNPdbers1800863
MSV3drs1800863
GWAS Ctlgrs1800863
GMAF0.1602
Max Magnitude0
? (C;C) (C;G) (G;G) 28
[PMID 20454948] Association analysis of the RET proto-oncogene with Hirschsprung disease in the Han Chinese population of southeastern China


[PMID 20532249OA-icon.png] Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.


[PMID 23059849] Medullary thyroid carcinoma (MTC) and RET proto-oncogene: mutation spectrum in the familial cases and a meta-analysis of studies on the sporadic form


ClinVar
Risk rs1800863(A;A) rs1800863(G;G)
Alt rs1800863(A;A) rs1800863(G;G)
Reference Rs1800863(C;C)
Significance Probable-non-pathogenic
Disease No MEN2 disease not specified Hereditary cancer-predisposing syndrome Renal adysplasia Hirschsprung Disease Multiple endocrine neoplasia Pheochromocytoma
Variation info
Gene RET
CLNDBN No MEN2 disease not specified Hereditary cancer-predisposing syndrome Renal adysplasia Hirschsprung Disease, Dominant Multiple endocrine neoplasia Pheochromocytoma
Reversed 0
HGVS NC_000010.10:g.43615633C>G
CLNSRC HGMD
CLNACC RCV000021879.1, RCV000039053.9, RCV000162948.1, RCV000280812.1, RCV000296421.1, RCV000349734.1, RCV000398445.1,



[PMID 8084609] DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.


[PMID 24897126OA-icon.png] RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease


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