rs863224517
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863224517(-;-) |
Make rs863224517(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 60742936 |
Gene | CHD7 |
is a | snp |
is | mentioned by |
dbSNP | rs863224517 |
dbSNP (classic) | rs863224517 |
ClinGen | rs863224517 |
ebi | rs863224517 |
HLI | rs863224517 |
Exac | rs863224517 |
Gnomad | rs863224517 |
Varsome | rs863224517 |
LitVar | rs863224517 |
Map | rs863224517 |
PheGenI | rs863224517 |
Biobank | rs863224517 |
1000 genomes | rs863224517 |
hgdp | rs863224517 |
ensembl | rs863224517 |
geneview | rs863224517 |
scholar | rs863224517 |
rs863224517 | |
pharmgkb | rs863224517 |
gwascentral | rs863224517 |
openSNP | rs863224517 |
23andMe | rs863224517 |
SNPshot | rs863224517 |
SNPdbe | rs863224517 |
MSV3d | rs863224517 |
GWAS Ctlg | rs863224517 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224517(-;-) |
Alt | rs863224517(-;-) |
Reference | Rs863224517(C;C) |
Significance | Pathogenic |
Disease | CHARGE association |
Variation | info |
Gene | CHD7 |
CLNDBN | CHARGE association |
Reversed | 0 |
HGVS | NC_000008.10:g.61655495delC |
CLNSRC | |
CLNACC | RCV000199561.1, |