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rs137853212

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853212(A;A)
Make rs137853212(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position50499201
GeneDDC
is asnp
is mentioned by
dbSNPrs137853212
ebirs137853212
HLIrs137853212
Exacrs137853212
Varsomers137853212
Maprs137853212
PheGenIrs137853212
hapmaprs137853212
1000 genomesrs137853212
hgdprs137853212
ensemblrs137853212
gopubmedrs137853212
geneviewrs137853212
scholarrs137853212
googlers137853212
pharmgkbrs137853212
gwascentralrs137853212
openSNPrs137853212
23andMers137853212
23andMe allrs137853212
SNP Nexus

SNPshotrs137853212
SNPdbers137853212
MSV3drs137853212
GWAS Ctlgrs137853212
Max Magnitude0
OMIM107930
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137853212(A;A)
Alt rs137853212(A;A)
Reference rs137853212(G;G)
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.50566899C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019392.23,