rs587783454
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587783454(C;T) |
Make rs587783454(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 60854437 |
Gene | CHD7 |
is a | snp |
is | mentioned by |
dbSNP | rs587783454 |
dbSNP (classic) | rs587783454 |
ClinGen | rs587783454 |
ebi | rs587783454 |
HLI | rs587783454 |
Exac | rs587783454 |
Gnomad | rs587783454 |
Varsome | rs587783454 |
LitVar | rs587783454 |
Map | rs587783454 |
PheGenI | rs587783454 |
Biobank | rs587783454 |
1000 genomes | rs587783454 |
hgdp | rs587783454 |
ensembl | rs587783454 |
geneview | rs587783454 |
scholar | rs587783454 |
rs587783454 | |
pharmgkb | rs587783454 |
gwascentral | rs587783454 |
openSNP | rs587783454 |
23andMe | rs587783454 |
SNPshot | rs587783454 |
SNPdbe | rs587783454 |
MSV3d | rs587783454 |
GWAS Ctlg | rs587783454 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783454(T;T) |
Alt | rs587783454(T;T) |
Reference | Rs587783454(C;C) |
Significance | Pathogenic |
Disease | CHARGE association |
Variation | info |
Gene | CHD7 |
CLNDBN | CHARGE association |
Reversed | 0 |
HGVS | NC_000008.10:g.61766996C>T |
CLNSRC | |
CLNACC | RCV000145689.2, |