rs797045463
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797045463(-;TTATCTTC) |
Make rs797045463(TTATCTTC;TTATCTTC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 60816397 |
Gene | CHD7 |
is a | snp |
is | mentioned by |
dbSNP | rs797045463 |
dbSNP (classic) | rs797045463 |
ClinGen | rs797045463 |
ebi | rs797045463 |
HLI | rs797045463 |
Exac | rs797045463 |
Gnomad | rs797045463 |
Varsome | rs797045463 |
LitVar | rs797045463 |
Map | rs797045463 |
PheGenI | rs797045463 |
Biobank | rs797045463 |
1000 genomes | rs797045463 |
hgdp | rs797045463 |
ensembl | rs797045463 |
geneview | rs797045463 |
scholar | rs797045463 |
rs797045463 | |
pharmgkb | rs797045463 |
gwascentral | rs797045463 |
openSNP | rs797045463 |
23andMe | rs797045463 |
SNPshot | rs797045463 |
SNPdbe | rs797045463 |
MSV3d | rs797045463 |
GWAS Ctlg | rs797045463 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045463(TCTTATCT;TCTTATCT) |
Alt | rs797045463(TCTTATCT;TCTTATCT) |
Reference | Rs797045463(-;-) |
Significance | Pathogenic |
Disease | CHARGE association |
Variation | info |
Gene | CHD7 |
CLNDBN | CHARGE association |
Reversed | 0 |
HGVS | NC_000008.10:g.61728949_61728956dupTTATCTTC |
CLNSRC | |
CLNACC | RCV000193650.1, |