rs200808744
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a alkaptonuria mutation |
Make rs200808744(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 120674919 |
Gene | HGD |
is a | snp |
is | mentioned by |
dbSNP | rs200808744 |
dbSNP (classic) | rs200808744 |
ClinGen | rs200808744 |
ebi | rs200808744 |
HLI | rs200808744 |
Exac | rs200808744 |
Gnomad | rs200808744 |
Varsome | rs200808744 |
LitVar | rs200808744 |
Map | rs200808744 |
PheGenI | rs200808744 |
Biobank | rs200808744 |
1000 genomes | rs200808744 |
hgdp | rs200808744 |
ensembl | rs200808744 |
geneview | rs200808744 |
scholar | rs200808744 |
rs200808744 | |
pharmgkb | rs200808744 |
gwascentral | rs200808744 |
openSNP | rs200808744 |
23andMe | rs200808744 |
SNPshot | rs200808744 |
SNPdbe | rs200808744 |
MSV3d | rs200808744 |
GWAS Ctlg | rs200808744 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs200808744(T;T) |
Alt | rs200808744(T;T) |
Reference | Rs200808744(C;C) |
Significance | Probable-Pathogenic |
Disease | Alkaptonuria |
Variation | info |
Gene | HGD |
CLNDBN | Alkaptonuria |
Reversed | 0 |
HGVS | NC_000003.11:g.120393766C>T |
CLNSRC | |
CLNACC | RCV000412076.1, |