rs544956641
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs544956641(A;A) |
Make rs544956641(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 120650843 |
Gene | HGD |
is a | snp |
is | mentioned by |
dbSNP | rs544956641 |
dbSNP (classic) | rs544956641 |
ClinGen | rs544956641 |
ebi | rs544956641 |
HLI | rs544956641 |
Exac | rs544956641 |
Gnomad | rs544956641 |
Varsome | rs544956641 |
LitVar | rs544956641 |
Map | rs544956641 |
PheGenI | rs544956641 |
Biobank | rs544956641 |
1000 genomes | rs544956641 |
hgdp | rs544956641 |
ensembl | rs544956641 |
geneview | rs544956641 |
scholar | rs544956641 |
rs544956641 | |
pharmgkb | rs544956641 |
gwascentral | rs544956641 |
openSNP | rs544956641 |
23andMe | rs544956641 |
SNPshot | rs544956641 |
SNPdbe | rs544956641 |
MSV3d | rs544956641 |
GWAS Ctlg | rs544956641 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs544956641(A;A) |
Alt | rs544956641(A;A) |
Reference | Rs544956641(G;G) |
Significance | Probable-Pathogenic |
Disease | Alkaptonuria |
Variation | info |
Gene | HGD |
CLNDBN | Alkaptonuria |
Reversed | 0 |
HGVS | NC_000003.11:g.120369690G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169217.1, |