rs768184220
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs768184220(A;T) |
Make rs768184220(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 8 |
Position | 60823879 |
Gene | CHD7 |
is a | snp |
is | mentioned by |
dbSNP | rs768184220 |
dbSNP (classic) | rs768184220 |
ClinGen | rs768184220 |
ebi | rs768184220 |
HLI | rs768184220 |
Exac | rs768184220 |
Gnomad | rs768184220 |
Varsome | rs768184220 |
LitVar | rs768184220 |
Map | rs768184220 |
PheGenI | rs768184220 |
Biobank | rs768184220 |
1000 genomes | rs768184220 |
hgdp | rs768184220 |
ensembl | rs768184220 |
geneview | rs768184220 |
scholar | rs768184220 |
rs768184220 | |
pharmgkb | rs768184220 |
gwascentral | rs768184220 |
openSNP | rs768184220 |
23andMe | rs768184220 |
SNPshot | rs768184220 |
SNPdbe | rs768184220 |
MSV3d | rs768184220 |
GWAS Ctlg | rs768184220 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768184220(G;G) rs768184220(T;T) |
Alt | rs768184220(G;G) rs768184220(T;T) |
Reference | Rs768184220(A;A) |
Significance | Probable-Pathogenic |
Disease | not specified CHARGE association |
Variation | info |
Gene | CHD7 |
CLNDBN | not specified CHARGE association |
Reversed | 0 |
HGVS | NC_000008.10:g.61736438A>G; NC_000008.10:g.61736438A>T |
CLNSRC | |
CLNACC | RCV000300836.1, RCV000458470.1, RCV000258096.1, |