rs786200873
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786200873(-;A) |
Make rs786200873(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 60852105 |
Gene | CHD7 |
is a | snp |
is | mentioned by |
dbSNP | rs786200873 |
dbSNP (classic) | rs786200873 |
ClinGen | rs786200873 |
ebi | rs786200873 |
HLI | rs786200873 |
Exac | rs786200873 |
Gnomad | rs786200873 |
Varsome | rs786200873 |
LitVar | rs786200873 |
Map | rs786200873 |
PheGenI | rs786200873 |
Biobank | rs786200873 |
1000 genomes | rs786200873 |
hgdp | rs786200873 |
ensembl | rs786200873 |
geneview | rs786200873 |
scholar | rs786200873 |
rs786200873 | |
pharmgkb | rs786200873 |
gwascentral | rs786200873 |
openSNP | rs786200873 |
23andMe | rs786200873 |
SNPshot | rs786200873 |
SNPdbe | rs786200873 |
MSV3d | rs786200873 |
GWAS Ctlg | rs786200873 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200873(A;A) |
Alt | rs786200873(A;A) |
Reference | Rs786200873(-;-) |
Significance | Pathogenic |
Disease | CHARGE association |
Variation | info |
Gene | CHD7 |
CLNDBN | CHARGE association |
Reversed | 0 |
HGVS | NC_000008.10:g.61764664dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002107.3, |