rs782009073
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs782009073(C;T) |
Make rs782009073(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 53548953 |
Gene | HUWE1 |
is a | snp |
is | mentioned by |
dbSNP | rs782009073 |
dbSNP (classic) | rs782009073 |
ClinGen | rs782009073 |
ebi | rs782009073 |
HLI | rs782009073 |
Exac | rs782009073 |
Gnomad | rs782009073 |
Varsome | rs782009073 |
LitVar | rs782009073 |
Map | rs782009073 |
PheGenI | rs782009073 |
Biobank | rs782009073 |
1000 genomes | rs782009073 |
hgdp | rs782009073 |
ensembl | rs782009073 |
geneview | rs782009073 |
scholar | rs782009073 |
rs782009073 | |
pharmgkb | rs782009073 |
gwascentral | rs782009073 |
openSNP | rs782009073 |
23andMe | rs782009073 |
SNPshot | rs782009073 |
SNPdbe | rs782009073 |
MSV3d | rs782009073 |
GWAS Ctlg | rs782009073 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs782009073(T;T) |
Alt | rs782009073(T;T) |
Reference | Rs782009073(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified |
Variation | info |
Gene | HUWE1 |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000023.10:g.53575914C>T |
CLNSRC | |
CLNACC | RCV000171439.2, |