rs749363958
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs749363958(-;-) |
Make rs749363958(-;TG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 52011318 |
Gene | ALG11, ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs749363958 |
dbSNP (classic) | rs749363958 |
ClinGen | rs749363958 |
ebi | rs749363958 |
HLI | rs749363958 |
Exac | rs749363958 |
Gnomad | rs749363958 |
Varsome | rs749363958 |
LitVar | rs749363958 |
Map | rs749363958 |
PheGenI | rs749363958 |
Biobank | rs749363958 |
1000 genomes | rs749363958 |
hgdp | rs749363958 |
ensembl | rs749363958 |
geneview | rs749363958 |
scholar | rs749363958 |
rs749363958 | |
pharmgkb | rs749363958 |
gwascentral | rs749363958 |
openSNP | rs749363958 |
23andMe | rs749363958 |
SNPshot | rs749363958 |
SNPdbe | rs749363958 |
MSV3d | rs749363958 |
GWAS Ctlg | rs749363958 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749363958(-;-) |
Alt | rs749363958(-;-) |
Reference | Rs749363958(TG;TG) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | ALG11 ATP7B |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.52585454_52585455delTG |
CLNSRC | |
CLNACC | RCV000478984.1, |