rs201947120
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201947120(C;T) |
Make rs201947120(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 72023536 |
Gene | DHODH |
is a | snp |
is | mentioned by |
dbSNP | rs201947120 |
dbSNP (classic) | rs201947120 |
ClinGen | rs201947120 |
ebi | rs201947120 |
HLI | rs201947120 |
Exac | rs201947120 |
Gnomad | rs201947120 |
Varsome | rs201947120 |
LitVar | rs201947120 |
Map | rs201947120 |
PheGenI | rs201947120 |
Biobank | rs201947120 |
1000 genomes | rs201947120 |
hgdp | rs201947120 |
ensembl | rs201947120 |
geneview | rs201947120 |
scholar | rs201947120 |
rs201947120 | |
pharmgkb | rs201947120 |
gwascentral | rs201947120 |
openSNP | rs201947120 |
23andMe | rs201947120 |
SNPshot | rs201947120 |
SNPdbe | rs201947120 |
MSV3d | rs201947120 |
GWAS Ctlg | rs201947120 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201947120(T;T) |
Alt | rs201947120(T;T) |
Reference | Rs201947120(C;C) |
Significance | Pathogenic |
Disease | Miller syndrome |
Variation | info |
Gene | DHODH |
CLNDBN | Miller syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.72057435C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018291.27, |