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rs76466003

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs76466003(A;A)
Make rs76466003(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position37815839
GeneGDNF
is asnp
is mentioned by
dbSNPrs76466003
dbSNP (classic)rs76466003
ClinGenrs76466003
ebirs76466003
HLIrs76466003
Exacrs76466003
Gnomadrs76466003
Varsomers76466003
LitVarrs76466003
Maprs76466003
PheGenIrs76466003
Biobankrs76466003
1000 genomesrs76466003
hgdprs76466003
ensemblrs76466003
geneviewrs76466003
scholarrs76466003
googlers76466003
pharmgkbrs76466003
gwascentralrs76466003
openSNPrs76466003
23andMers76466003
SNPshotrs76466003
SNPdbers76466003
MSV3drs76466003
GWAS Ctlgrs76466003
Merged fromRs121918534
GMAF0.001377
Max Magnitude0
OMIM600837
Desc
Variant0002
Relatedalso
ClinVar
Risk rs76466003(A;A)
Alt rs76466003(A;A)
Reference Rs76466003(G;G)
Significance Other
Disease Hirschsprung disease 3 not specified Hirschsprung Disease
Variation info
Gene GDNF
CLNDBN Hirschsprung disease 3 not specified Hirschsprung Disease, Dominant
Reversed 1
HGVS NC_000005.9:g.37815941C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009304.2, RCV000252402.1, RCV000361051.1,