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rs80236571

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs80236571(A;A)
Make rs80236571(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position43106497
GeneRET
is asnp
is mentioned by
dbSNPrs80236571
dbSNP (classic)rs80236571
ClinGenrs80236571
ebirs80236571
HLIrs80236571
Exacrs80236571
Gnomadrs80236571
Varsomers80236571
LitVarrs80236571
Maprs80236571
PheGenIrs80236571
Biobankrs80236571
1000 genomesrs80236571
hgdprs80236571
ensemblrs80236571
geneviewrs80236571
scholarrs80236571
googlers80236571
pharmgkbrs80236571
gwascentralrs80236571
openSNPrs80236571
23andMers80236571
SNPshotrs80236571
SNPdbers80236571
MSV3drs80236571
GWAS Ctlgrs80236571
Max Magnitude0
OMIM164761
Desc
Variant0022
Relatedalso
ClinVar
Risk rs80236571(A;A)
Alt rs80236571(A;A)
Reference Rs80236571(G;G)
Significance Other
Disease Hirschsprung disease 1
Variation info
Gene RET
CLNDBN Hirschsprung disease 1
Reversed 0
HGVS NC_000010.10:g.43601945G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014951.2,