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rs76534745

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs76534745(A;G)
Make rs76534745(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position43123783
GeneRET
is asnp
is mentioned by
dbSNPrs76534745
dbSNP (classic)rs76534745
ClinGenrs76534745
ebirs76534745
HLIrs76534745
Exacrs76534745
Gnomadrs76534745
Varsomers76534745
LitVarrs76534745
Maprs76534745
PheGenIrs76534745
Biobankrs76534745
1000 genomesrs76534745
hgdprs76534745
ensemblrs76534745
geneviewrs76534745
scholarrs76534745
googlers76534745
pharmgkbrs76534745
gwascentralrs76534745
openSNPrs76534745
23andMers76534745
SNPshotrs76534745
SNPdbers76534745
MSV3drs76534745
GWAS Ctlgrs76534745
Max Magnitude0
OMIM164761
Desc
Variant0017
Relatedalso
ClinVar
Risk rs76534745(G;G)
Alt rs76534745(G;G)
Reference Rs76534745(A;A)
Significance Other
Disease Hirschsprung disease 1
Variation info
Gene RET
CLNDBN Hirschsprung disease 1
Reversed 0
HGVS NC_000010.10:g.43619231A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014947.2,