rs786204662
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs786204662(-;-) |
Make rs786204662(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 120644441 |
Gene | HGD |
is a | snp |
is | mentioned by |
dbSNP | rs786204662 |
dbSNP (classic) | rs786204662 |
ClinGen | rs786204662 |
ebi | rs786204662 |
HLI | rs786204662 |
Exac | rs786204662 |
Gnomad | rs786204662 |
Varsome | rs786204662 |
LitVar | rs786204662 |
Map | rs786204662 |
PheGenI | rs786204662 |
Biobank | rs786204662 |
1000 genomes | rs786204662 |
hgdp | rs786204662 |
ensembl | rs786204662 |
geneview | rs786204662 |
scholar | rs786204662 |
rs786204662 | |
pharmgkb | rs786204662 |
gwascentral | rs786204662 |
openSNP | rs786204662 |
23andMe | rs786204662 |
SNPshot | rs786204662 |
SNPdbe | rs786204662 |
MSV3d | rs786204662 |
GWAS Ctlg | rs786204662 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204662(-;-) |
Alt | rs786204662(-;-) |
Reference | Rs786204662(G;G) |
Significance | Probable-Pathogenic |
Disease | Alkaptonuria |
Variation | info |
Gene | HGD |
CLNDBN | Alkaptonuria |
Reversed | 1 |
HGVS | NC_000003.11:g.120363288delC |
CLNSRC | |
CLNACC | RCV000169458.1, |