rs775271588
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs775271588(A;G) |
Make rs775271588(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 1220830 |
Gene | CACNA1H |
is a | snp |
is | mentioned by |
dbSNP | rs775271588 |
dbSNP (classic) | rs775271588 |
ClinGen | rs775271588 |
ebi | rs775271588 |
HLI | rs775271588 |
Exac | rs775271588 |
Gnomad | rs775271588 |
Varsome | rs775271588 |
LitVar | rs775271588 |
Map | rs775271588 |
PheGenI | rs775271588 |
Biobank | rs775271588 |
1000 genomes | rs775271588 |
hgdp | rs775271588 |
ensembl | rs775271588 |
geneview | rs775271588 |
scholar | rs775271588 |
rs775271588 | |
pharmgkb | rs775271588 |
gwascentral | rs775271588 |
openSNP | rs775271588 |
23andMe | rs775271588 |
SNPshot | rs775271588 |
SNPdbe | rs775271588 |
MSV3d | rs775271588 |
GWAS Ctlg | rs775271588 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775271588(G;G) |
Alt | rs775271588(G;G) |
Reference | Rs775271588(A;A) |
Significance | Probable-Pathogenic |
Disease | Abnormality of brain morphology |
Variation | info |
Gene | CACNA1H |
CLNDBN | Abnormality of brain morphology |
Reversed | 0 |
HGVS | NC_000016.9:g.1270830A>G |
CLNSRC | |
CLNACC | RCV000454291.1, |