rs137853211
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137853211(C;T) |
Make rs137853211(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 50539958 |
Gene | DDC, DDC-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs137853211 |
dbSNP (classic) | rs137853211 |
ClinGen | rs137853211 |
ebi | rs137853211 |
HLI | rs137853211 |
Exac | rs137853211 |
Gnomad | rs137853211 |
Varsome | rs137853211 |
LitVar | rs137853211 |
Map | rs137853211 |
PheGenI | rs137853211 |
Biobank | rs137853211 |
1000 genomes | rs137853211 |
hgdp | rs137853211 |
ensembl | rs137853211 |
geneview | rs137853211 |
scholar | rs137853211 |
rs137853211 | |
pharmgkb | rs137853211 |
gwascentral | rs137853211 |
openSNP | rs137853211 |
23andMe | rs137853211 |
SNPshot | rs137853211 |
SNPdbe | rs137853211 |
MSV3d | rs137853211 |
GWAS Ctlg | rs137853211 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853211(T;T) |
Alt | rs137853211(T;T) |
Reference | Rs137853211(C;C) |
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.50607656G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019391.22, |