rs201497300
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201497300(C;T) |
Make rs201497300(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 51946337 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs201497300 |
dbSNP (classic) | rs201497300 |
ClinGen | rs201497300 |
ebi | rs201497300 |
HLI | rs201497300 |
Exac | rs201497300 |
Gnomad | rs201497300 |
Varsome | rs201497300 |
LitVar | rs201497300 |
Map | rs201497300 |
PheGenI | rs201497300 |
Biobank | rs201497300 |
1000 genomes | rs201497300 |
hgdp | rs201497300 |
ensembl | rs201497300 |
geneview | rs201497300 |
scholar | rs201497300 |
rs201497300 | |
pharmgkb | rs201497300 |
gwascentral | rs201497300 |
openSNP | rs201497300 |
23andMe | rs201497300 |
SNPshot | rs201497300 |
SNPdbe | rs201497300 |
MSV3d | rs201497300 |
GWAS Ctlg | rs201497300 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201497300(T;T) |
Alt | rs201497300(T;T) |
Reference | Rs201497300(C;C) |
Significance | Probable-Pathogenic |
Disease | Wilson disease Epileptic encephalopathy |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease Epileptic encephalopathy |
Reversed | 0 |
HGVS | NC_000013.10:g.52520473C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169133.1, RCV000415237.1, |