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rs201951824

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201951824(C;T)
Make rs201951824(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position50476625
GeneDDC
is asnp
is mentioned by
dbSNPrs201951824
dbSNP (classic)rs201951824
ClinGenrs201951824
ebirs201951824
HLIrs201951824
Exacrs201951824
Gnomadrs201951824
Varsomers201951824
LitVarrs201951824
Maprs201951824
PheGenIrs201951824
Biobankrs201951824
1000 genomesrs201951824
hgdprs201951824
ensemblrs201951824
geneviewrs201951824
scholarrs201951824
googlers201951824
pharmgkbrs201951824
gwascentralrs201951824
openSNPrs201951824
23andMers201951824
SNPshotrs201951824
SNPdbers201951824
MSV3drs201951824
GWAS Ctlgrs201951824
Max Magnitude0
ClinVar
Risk rs201951824(T;T)
Alt rs201951824(T;T)
Reference Rs201951824(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 0
HGVS NC_000007.13:g.50544323C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000184027.1,