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rs137853207

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853207(A;A)
Make rs137853207(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position50539926
GeneDDC
is asnp
is mentioned by
dbSNPrs137853207
ebirs137853207
HLIrs137853207
Exacrs137853207
Varsomers137853207
Maprs137853207
PheGenIrs137853207
hapmaprs137853207
1000 genomesrs137853207
hgdprs137853207
ensemblrs137853207
gopubmedrs137853207
geneviewrs137853207
scholarrs137853207
googlers137853207
pharmgkbrs137853207
gwascentralrs137853207
openSNPrs137853207
23andMers137853207
23andMe allrs137853207
SNP Nexus

SNPshotrs137853207
SNPdbers137853207
MSV3drs137853207
GWAS Ctlgrs137853207
Max Magnitude0
OMIM107930
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853207(A;A)
Alt rs137853207(A;A)
Reference rs137853207(G;G)
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.50607624C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019387.24,