rs398124319
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TA;TA) | 0 | common in clinvar |
Make rs398124319(-;-) |
Make rs398124319(-;TA) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 60838101 |
Gene | CHD7 |
is a | snp |
is | mentioned by |
dbSNP | rs398124319 |
dbSNP (classic) | rs398124319 |
ClinGen | rs398124319 |
ebi | rs398124319 |
HLI | rs398124319 |
Exac | rs398124319 |
Gnomad | rs398124319 |
Varsome | rs398124319 |
LitVar | rs398124319 |
Map | rs398124319 |
PheGenI | rs398124319 |
Biobank | rs398124319 |
1000 genomes | rs398124319 |
hgdp | rs398124319 |
ensembl | rs398124319 |
geneview | rs398124319 |
scholar | rs398124319 |
rs398124319 | |
pharmgkb | rs398124319 |
gwascentral | rs398124319 |
openSNP | rs398124319 |
23andMe | rs398124319 |
SNPshot | rs398124319 |
SNPdbe | rs398124319 |
MSV3d | rs398124319 |
GWAS Ctlg | rs398124319 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124319(-;-) |
Alt | rs398124319(-;-) |
Reference | Rs398124319(AT;AT) |
Significance | Pathogenic |
Disease | not provided CHARGE association |
Variation | info |
Gene | CHD7 |
CLNDBN | not provided CHARGE association |
Reversed | 0 |
HGVS | NC_000008.10:g.61750660_61750661delTA |
CLNSRC | ClinVar |
CLNACC | RCV000081835.4, RCV000365843.1, |