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rs137853210

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853210(A;C)
Make rs137853210(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position50529339
GeneDDC
is asnp
is mentioned by
dbSNPrs137853210
ebirs137853210
HLIrs137853210
Exacrs137853210
Varsomers137853210
Maprs137853210
PheGenIrs137853210
hapmaprs137853210
1000 genomesrs137853210
hgdprs137853210
ensemblrs137853210
gopubmedrs137853210
geneviewrs137853210
scholarrs137853210
googlers137853210
pharmgkbrs137853210
gwascentralrs137853210
openSNPrs137853210
23andMers137853210
23andMe allrs137853210
SNP Nexus

SNPshotrs137853210
SNPdbers137853210
MSV3drs137853210
GWAS Ctlgrs137853210
Max Magnitude0
OMIM107930
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137853210(C;C)
Alt rs137853210(C;C)
Reference rs137853210(A;A)
Significance Pathogenic
Disease Deficiency of aromatic-L-amino-acid decarboxylase
Variation info
Gene DDC
CLNDBN Deficiency of aromatic-L-amino-acid decarboxylase
Reversed 1
HGVS NC_000007.13:g.50597037T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019390.26,