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rs137853211

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853211(C;T)
Make rs137853211(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position50539958
GeneDDC
is asnp
is mentioned by
dbSNPrs137853211
ebirs137853211
HLIrs137853211
Exacrs137853211
Varsomers137853211
Maprs137853211
PheGenIrs137853211
hapmaprs137853211
1000 genomesrs137853211
hgdprs137853211
ensemblrs137853211
gopubmedrs137853211
geneviewrs137853211
scholarrs137853211
googlers137853211
pharmgkbrs137853211
gwascentralrs137853211
openSNPrs137853211
23andMers137853211
23andMe allrs137853211
SNP Nexus

SNPshotrs137853211
SNPdbers137853211
MSV3drs137853211
GWAS Ctlgrs137853211
Max Magnitude0
OMIM107930
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137853211(T;T)
Alt rs137853211(T;T)
Reference rs137853211(C;C)
Significance Pathogenic
Disease Deficiency of aromatic-L-amino-acid decarboxylase
Variation info
Gene DDC DDC-AS1
CLNDBN Deficiency of aromatic-L-amino-acid decarboxylase
Reversed 1
HGVS NC_000007.13:g.50607656G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019391.22,