rs34035085
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs34035085(A;A) |
Make rs34035085(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 24500256 |
Gene | UPB1 |
is a | snp |
is | mentioned by |
dbSNP | rs34035085 |
dbSNP (classic) | rs34035085 |
ClinGen | rs34035085 |
ebi | rs34035085 |
HLI | rs34035085 |
Exac | rs34035085 |
Gnomad | rs34035085 |
Varsome | rs34035085 |
LitVar | rs34035085 |
Map | rs34035085 |
PheGenI | rs34035085 |
Biobank | rs34035085 |
1000 genomes | rs34035085 |
hgdp | rs34035085 |
ensembl | rs34035085 |
geneview | rs34035085 |
scholar | rs34035085 |
rs34035085 | |
pharmgkb | rs34035085 |
gwascentral | rs34035085 |
openSNP | rs34035085 |
23andMe | rs34035085 |
SNPshot | rs34035085 |
SNPdbe | rs34035085 |
MSV3d | rs34035085 |
GWAS Ctlg | rs34035085 |
GMAF | 0.002755 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34035085(A;A) rs34035085(T;T) |
Alt | rs34035085(A;A) rs34035085(T;T) |
Reference | Rs34035085(C;C) |
Significance | Pathogenic |
Disease | Deficiency of beta-ureidopropionase not provided not specified |
Variation | info |
Gene | UPB1 |
CLNDBN | Deficiency of beta-ureidopropionase not provided not specified |
Reversed | 0 |
HGVS | NC_000022.10:g.24896224C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004365.3, RCV000086541.1, RCV000455167.1, |