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rs104893891

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs104893891(A;T)
Make rs104893891(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position37815827
GeneGDNF
is asnp
is mentioned by
dbSNPrs104893891
dbSNP (classic)rs104893891
ClinGenrs104893891
ebirs104893891
HLIrs104893891
Exacrs104893891
Gnomadrs104893891
Varsomers104893891
LitVarrs104893891
Maprs104893891
PheGenIrs104893891
Biobankrs104893891
1000 genomesrs104893891
hgdprs104893891
ensemblrs104893891
geneviewrs104893891
scholarrs104893891
googlers104893891
pharmgkbrs104893891
gwascentralrs104893891
openSNPrs104893891
23andMers104893891
SNPshotrs104893891
SNPdbers104893891
MSV3drs104893891
GWAS Ctlgrs104893891
Merged fromRs121918535
Max Magnitude0
OMIM600837
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893891(T;T)
Alt rs104893891(T;T)
Reference Rs104893891(A;A)
Significance Other
Disease Hirschsprung disease 3
Variation info
Gene GDNF
CLNDBN Hirschsprung disease 3
Reversed 1
HGVS NC_000005.9:g.37815929T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009305.3,