rs201951824
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201951824(C;T) |
Make rs201951824(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 50476625 |
Gene | DDC |
is a | snp |
is | mentioned by |
dbSNP | rs201951824 |
dbSNP (classic) | rs201951824 |
ClinGen | rs201951824 |
ebi | rs201951824 |
HLI | rs201951824 |
Exac | rs201951824 |
Gnomad | rs201951824 |
Varsome | rs201951824 |
LitVar | rs201951824 |
Map | rs201951824 |
PheGenI | rs201951824 |
Biobank | rs201951824 |
1000 genomes | rs201951824 |
hgdp | rs201951824 |
ensembl | rs201951824 |
geneview | rs201951824 |
scholar | rs201951824 |
rs201951824 | |
pharmgkb | rs201951824 |
gwascentral | rs201951824 |
openSNP | rs201951824 |
23andMe | rs201951824 |
SNPshot | rs201951824 |
SNPdbe | rs201951824 |
MSV3d | rs201951824 |
GWAS Ctlg | rs201951824 |
Max Magnitude | 0 |
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, |