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rs121918536

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs121918536(C;G)
Make rs121918536(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position37815654
GeneGDNF
is asnp
is mentioned by
dbSNPrs121918536
dbSNP (classic)rs121918536
ClinGenrs121918536
ebirs121918536
HLIrs121918536
Exacrs121918536
Gnomadrs121918536
Varsomers121918536
LitVarrs121918536
Maprs121918536
PheGenIrs121918536
Biobankrs121918536
1000 genomesrs121918536
hgdprs121918536
ensemblrs121918536
geneviewrs121918536
scholarrs121918536
googlers121918536
pharmgkbrs121918536
gwascentralrs121918536
openSNPrs121918536
23andMers121918536
SNPshotrs121918536
SNPdbers121918536
MSV3drs121918536
GWAS Ctlgrs121918536
Max Magnitude0
OMIM600837
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918536(G;G)
Alt rs121918536(G;G)
Reference Rs121918536(C;C)
Significance Other
Disease Hirschsprung disease 3
Variation info
Gene GDNF
CLNDBN Hirschsprung disease 3
Reversed 1
HGVS NC_000005.9:g.37815756G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009306.3,