rs267606767
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267606767(A;A) |
Make rs267606767(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 72021211 |
Gene | DHODH |
is a | snp |
is | mentioned by |
dbSNP | rs267606767 |
dbSNP (classic) | rs267606767 |
ClinGen | rs267606767 |
ebi | rs267606767 |
HLI | rs267606767 |
Exac | rs267606767 |
Gnomad | rs267606767 |
Varsome | rs267606767 |
LitVar | rs267606767 |
Map | rs267606767 |
PheGenI | rs267606767 |
Biobank | rs267606767 |
1000 genomes | rs267606767 |
hgdp | rs267606767 |
ensembl | rs267606767 |
geneview | rs267606767 |
scholar | rs267606767 |
rs267606767 | |
pharmgkb | rs267606767 |
gwascentral | rs267606767 |
openSNP | rs267606767 |
23andMe | rs267606767 |
SNPshot | rs267606767 |
SNPdbe | rs267606767 |
MSV3d | rs267606767 |
GWAS Ctlg | rs267606767 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606767(A;A) rs267606767(C;C) |
Alt | rs267606767(A;A) rs267606767(C;C) |
Reference | Rs267606767(G;G) |
Significance | Pathogenic |
Disease | Miller syndrome |
Variation | info |
Gene | DHODH |
CLNDBN | Miller syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.72055110G>A; NC_000016.9:g.72055110G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018296.27, RCV000018295.27, |