rs2255543
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs2255543(A;T) |
Make rs2255543(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 120670469 |
Gene | HGD |
is a | snp |
is | mentioned by |
dbSNP | rs2255543 |
dbSNP (classic) | rs2255543 |
ClinGen | rs2255543 |
ebi | rs2255543 |
HLI | rs2255543 |
Exac | rs2255543 |
Gnomad | rs2255543 |
Varsome | rs2255543 |
LitVar | rs2255543 |
Map | rs2255543 |
PheGenI | rs2255543 |
Biobank | rs2255543 |
1000 genomes | rs2255543 |
hgdp | rs2255543 |
ensembl | rs2255543 |
geneview | rs2255543 |
scholar | rs2255543 |
rs2255543 | |
pharmgkb | rs2255543 |
gwascentral | rs2255543 |
openSNP | rs2255543 |
23andMe | rs2255543 |
SNPshot | rs2255543 |
SNPdbe | rs2255543 |
MSV3d | rs2255543 |
GWAS Ctlg | rs2255543 |
GMAF | 0.2635 |
Max Magnitude | 0 |
? | (A;A) (A;T) (T;T) | |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2255543(T;T) |
Alt | rs2255543(T;T) |
Reference | Rs2255543(A;A) |
Significance | Non-pathogenic |
Disease | not specified Alkaptonuria |
Variation | info |
Gene | HGD |
CLNDBN | not specified Alkaptonuria |
Reversed | 1 |
HGVS | NC_000003.11:g.120389316T>A |
CLNSRC | |
CLNACC | RCV000252512.1, RCV000306096.1, |