rs267606773
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267606773(A;A) |
Make rs267606773(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 104392924 |
Gene | DPYS |
is a | snp |
is | mentioned by |
dbSNP | rs267606773 |
dbSNP (classic) | rs267606773 |
ClinGen | rs267606773 |
ebi | rs267606773 |
HLI | rs267606773 |
Exac | rs267606773 |
Gnomad | rs267606773 |
Varsome | rs267606773 |
LitVar | rs267606773 |
Map | rs267606773 |
PheGenI | rs267606773 |
Biobank | rs267606773 |
1000 genomes | rs267606773 |
hgdp | rs267606773 |
ensembl | rs267606773 |
geneview | rs267606773 |
scholar | rs267606773 |
rs267606773 | |
pharmgkb | rs267606773 |
gwascentral | rs267606773 |
openSNP | rs267606773 |
23andMe | rs267606773 |
SNPshot | rs267606773 |
SNPdbe | rs267606773 |
MSV3d | rs267606773 |
GWAS Ctlg | rs267606773 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606773(A;A) |
Alt | rs267606773(A;A) |
Reference | Rs267606773(G;G) |
Significance | Pathogenic |
Disease | Dihydropyrimidinase deficiency |
Variation | info |
Gene | DPYS |
CLNDBN | Dihydropyrimidinase deficiency |
Reversed | 1 |
HGVS | NC_000008.10:g.105405152C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000208.4, |