rs587783450
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587783450(C;T) |
Make rs587783450(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 60852882 |
Gene | CHD7 |
is a | snp |
is | mentioned by |
dbSNP | rs587783450 |
dbSNP (classic) | rs587783450 |
ClinGen | rs587783450 |
ebi | rs587783450 |
HLI | rs587783450 |
Exac | rs587783450 |
Gnomad | rs587783450 |
Varsome | rs587783450 |
LitVar | rs587783450 |
Map | rs587783450 |
PheGenI | rs587783450 |
Biobank | rs587783450 |
1000 genomes | rs587783450 |
hgdp | rs587783450 |
ensembl | rs587783450 |
geneview | rs587783450 |
scholar | rs587783450 |
rs587783450 | |
pharmgkb | rs587783450 |
gwascentral | rs587783450 |
openSNP | rs587783450 |
23andMe | rs587783450 |
SNPshot | rs587783450 |
SNPdbe | rs587783450 |
MSV3d | rs587783450 |
GWAS Ctlg | rs587783450 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783450(T;T) |
Alt | rs587783450(T;T) |
Reference | Rs587783450(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.61765441C>T |
CLNSRC | |
CLNACC | RCV000145682.1, RCV000389698.1, |