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rs137853208

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853208(C;T)
Make rs137853208(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position50504025
GeneDDC
is asnp
is mentioned by
dbSNPrs137853208
ebirs137853208
HLIrs137853208
Exacrs137853208
Varsomers137853208
Maprs137853208
PheGenIrs137853208
hapmaprs137853208
1000 genomesrs137853208
hgdprs137853208
ensemblrs137853208
gopubmedrs137853208
geneviewrs137853208
scholarrs137853208
googlers137853208
pharmgkbrs137853208
gwascentralrs137853208
openSNPrs137853208
23andMers137853208
23andMe allrs137853208
SNP Nexus

SNPshotrs137853208
SNPdbers137853208
MSV3drs137853208
GWAS Ctlgrs137853208
Max Magnitude0
OMIM107930
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853208(T;T)
Alt rs137853208(T;T)
Reference rs137853208(C;C)
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.50571723G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019388.24,