rs149165166
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 3 | Carrier of a alkaptonuria mutation |
Make rs149165166(A;G) |
Make rs149165166(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 120650848 |
Gene | HGD |
is a | snp |
is | mentioned by |
dbSNP | rs149165166 |
dbSNP (classic) | rs149165166 |
ClinGen | rs149165166 |
ebi | rs149165166 |
HLI | rs149165166 |
Exac | rs149165166 |
Gnomad | rs149165166 |
Varsome | rs149165166 |
LitVar | rs149165166 |
Map | rs149165166 |
PheGenI | rs149165166 |
Biobank | rs149165166 |
1000 genomes | rs149165166 |
hgdp | rs149165166 |
ensembl | rs149165166 |
geneview | rs149165166 |
scholar | rs149165166 |
rs149165166 | |
pharmgkb | rs149165166 |
gwascentral | rs149165166 |
openSNP | rs149165166 |
23andMe | rs149165166 |
SNPshot | rs149165166 |
SNPdbe | rs149165166 |
MSV3d | rs149165166 |
GWAS Ctlg | rs149165166 |
GMAF | 0.0004591 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs149165166(C;C) rs149165166(G;G) |
Alt | rs149165166(C;C) rs149165166(G;G) |
Reference | Rs149165166(A;A) |
Significance | Pathogenic |
Disease | Alkaptonuria not specified |
Variation | info |
Gene | HGD |
CLNDBN | Alkaptonuria not specified |
Reversed | 0 |
HGVS | NC_000003.11:g.120369695A>C; NC_000003.11:g.120369695A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000055782.2, RCV000244506.1, |