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rs137853209

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853209(C;C)
Make rs137853209(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position50495369
GeneDDC
is asnp
is mentioned by
dbSNPrs137853209
ebirs137853209
HLIrs137853209
Exacrs137853209
Varsomers137853209
Maprs137853209
PheGenIrs137853209
hapmaprs137853209
1000 genomesrs137853209
hgdprs137853209
ensemblrs137853209
gopubmedrs137853209
geneviewrs137853209
scholarrs137853209
googlers137853209
pharmgkbrs137853209
gwascentralrs137853209
openSNPrs137853209
23andMers137853209
23andMe allrs137853209
SNP Nexus

SNPshotrs137853209
SNPdbers137853209
MSV3drs137853209
GWAS Ctlgrs137853209
Max Magnitude0
OMIM107930
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853209(C;C)
Alt rs137853209(C;C)
Reference rs137853209(T;T)
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.50563067A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019389.26,