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rs6264

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs6264(A;A)
Make rs6264(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position50544037
GeneDDC
is asnp
is mentioned by
dbSNPrs6264
ebirs6264
HLIrs6264
Exacrs6264
Varsomers6264
Maprs6264
PheGenIrs6264
hapmaprs6264
1000 genomesrs6264
hgdprs6264
ensemblrs6264
gopubmedrs6264
geneviewrs6264
scholarrs6264
googlers6264
pharmgkbrs6264
gwascentralrs6264
openSNPrs6264
23andMers6264
23andMe allrs6264
SNP Nexus

SNPshotrs6264
SNPdbers6264
MSV3drs6264
GWAS Ctlgrs6264
GMAF0.007805
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene DDC
allele C
frequency 1
sift TOLERATED
HuRef 1103652572936
Disease Association Defects in DDC are the cause of AADC deficiency (MIM:608643). AADC deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive.



GET Evidence
DDC-M17V
aa_change Met17Val
aa_change_short M17V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.993028
summary