rs200030276
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200030276(A;A) |
Make rs200030276(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 91355928 |
Gene | AUH |
is a | snp |
is | mentioned by |
dbSNP | rs200030276 |
dbSNP (classic) | rs200030276 |
ClinGen | rs200030276 |
ebi | rs200030276 |
HLI | rs200030276 |
Exac | rs200030276 |
Gnomad | rs200030276 |
Varsome | rs200030276 |
LitVar | rs200030276 |
Map | rs200030276 |
PheGenI | rs200030276 |
Biobank | rs200030276 |
1000 genomes | rs200030276 |
hgdp | rs200030276 |
ensembl | rs200030276 |
geneview | rs200030276 |
scholar | rs200030276 |
rs200030276 | |
pharmgkb | rs200030276 |
gwascentral | rs200030276 |
openSNP | rs200030276 |
23andMe | rs200030276 |
SNPshot | rs200030276 |
SNPdbe | rs200030276 |
MSV3d | rs200030276 |
GWAS Ctlg | rs200030276 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200030276(A;A) |
Alt | rs200030276(A;A) |
Reference | Rs200030276(G;G) |
Significance | Probable-Pathogenic |
Disease | 3-Methylglutaconic aciduria |
Variation | info |
Gene | AUH |
CLNDBN | 3-Methylglutaconic aciduria |
Reversed | 0 |
HGVS | NC_000009.11:g.94118210G>A |
CLNSRC | |
CLNACC | RCV000190355.1, |