rs120074171
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 3 | Carrier of a alkaptonuria mutation |
Make rs120074171(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 120638471 |
Gene | HGD |
is a | snp |
is | mentioned by |
dbSNP | rs120074171 |
dbSNP (classic) | rs120074171 |
ClinGen | rs120074171 |
ebi | rs120074171 |
HLI | rs120074171 |
Exac | rs120074171 |
Gnomad | rs120074171 |
Varsome | rs120074171 |
LitVar | rs120074171 |
Map | rs120074171 |
PheGenI | rs120074171 |
Biobank | rs120074171 |
1000 genomes | rs120074171 |
hgdp | rs120074171 |
ensembl | rs120074171 |
geneview | rs120074171 |
scholar | rs120074171 |
rs120074171 | |
pharmgkb | rs120074171 |
gwascentral | rs120074171 |
openSNP | rs120074171 |
23andMe | rs120074171 |
SNPshot | rs120074171 |
SNPdbe | rs120074171 |
MSV3d | rs120074171 |
GWAS Ctlg | rs120074171 |
GMAF | 0.0 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs120074171(A;A) rs120074171(T;T) |
Alt | rs120074171(A;A) rs120074171(T;T) |
Reference | Rs120074171(G;G) |
Significance | Pathogenic |
Disease | Alkaptonuria |
Variation | info |
Gene | HGD |
CLNDBN | Alkaptonuria |
Reversed | 1 |
HGVS | NC_000003.11:g.120357318C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003317.4, |