rs794727293
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794727293(C;T) |
Make rs794727293(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 60741901 |
Gene | CHD7 |
is a | snp |
is | mentioned by |
dbSNP | rs794727293 |
dbSNP (classic) | rs794727293 |
ClinGen | rs794727293 |
ebi | rs794727293 |
HLI | rs794727293 |
Exac | rs794727293 |
Gnomad | rs794727293 |
Varsome | rs794727293 |
LitVar | rs794727293 |
Map | rs794727293 |
PheGenI | rs794727293 |
Biobank | rs794727293 |
1000 genomes | rs794727293 |
hgdp | rs794727293 |
ensembl | rs794727293 |
geneview | rs794727293 |
scholar | rs794727293 |
rs794727293 | |
pharmgkb | rs794727293 |
gwascentral | rs794727293 |
openSNP | rs794727293 |
23andMe | rs794727293 |
SNPshot | rs794727293 |
SNPdbe | rs794727293 |
MSV3d | rs794727293 |
GWAS Ctlg | rs794727293 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727293(T;T) |
Alt | rs794727293(T;T) |
Reference | Rs794727293(C;C) |
Significance | Pathogenic |
Disease | CHARGE association not provided |
Variation | info |
Gene | CHD7 |
CLNDBN | CHARGE association not provided |
Reversed | 0 |
HGVS | NC_000008.10:g.61654460C>T |
CLNSRC | |
CLNACC | RCV000175883.1, RCV000351604.1, |