rs991738444
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs991738444(A;A) |
Make rs991738444(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 21400569 |
Gene | CHD8 |
is a | snp |
is | mentioned by |
dbSNP | rs991738444 |
dbSNP (classic) | rs991738444 |
ClinGen | rs991738444 |
ebi | rs991738444 |
HLI | rs991738444 |
Exac | rs991738444 |
Gnomad | rs991738444 |
Varsome | rs991738444 |
LitVar | rs991738444 |
Map | rs991738444 |
PheGenI | rs991738444 |
Biobank | rs991738444 |
1000 genomes | rs991738444 |
hgdp | rs991738444 |
ensembl | rs991738444 |
geneview | rs991738444 |
scholar | rs991738444 |
rs991738444 | |
pharmgkb | rs991738444 |
gwascentral | rs991738444 |
openSNP | rs991738444 |
23andMe | rs991738444 |
SNPshot | rs991738444 |
SNPdbe | rs991738444 |
MSV3d | rs991738444 |
GWAS Ctlg | rs991738444 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs991738444(A;A) rs991738444(T;T) |
Alt | rs991738444(A;A) rs991738444(T;T) |
Reference | Rs991738444(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000014.8:g.21868728G>A |
CLNSRC | |
CLNACC | RCV000482586.1, |