rs147941846
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs147941846(C;T) |
Make rs147941846(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 115768448 |
Gene | CASQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs147941846 |
dbSNP (classic) | rs147941846 |
ClinGen | rs147941846 |
ebi | rs147941846 |
HLI | rs147941846 |
Exac | rs147941846 |
Gnomad | rs147941846 |
Varsome | rs147941846 |
LitVar | rs147941846 |
Map | rs147941846 |
PheGenI | rs147941846 |
Biobank | rs147941846 |
1000 genomes | rs147941846 |
hgdp | rs147941846 |
ensembl | rs147941846 |
geneview | rs147941846 |
scholar | rs147941846 |
rs147941846 | |
pharmgkb | rs147941846 |
gwascentral | rs147941846 |
openSNP | rs147941846 |
23andMe | rs147941846 |
SNPshot | rs147941846 |
SNPdbe | rs147941846 |
MSV3d | rs147941846 |
GWAS Ctlg | rs147941846 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147941846(T;T) |
Alt | rs147941846(T;T) |
Reference | Rs147941846(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | CASQ2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.116311069C>T |
CLNSRC | |
CLNACC | RCV000170899.2, |