rs148057999
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs148057999(A;G) |
Make rs148057999(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 115738253 |
Gene | CASQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs148057999 |
dbSNP (classic) | rs148057999 |
ClinGen | rs148057999 |
ebi | rs148057999 |
HLI | rs148057999 |
Exac | rs148057999 |
Gnomad | rs148057999 |
Varsome | rs148057999 |
LitVar | rs148057999 |
Map | rs148057999 |
PheGenI | rs148057999 |
Biobank | rs148057999 |
1000 genomes | rs148057999 |
hgdp | rs148057999 |
ensembl | rs148057999 |
geneview | rs148057999 |
scholar | rs148057999 |
rs148057999 | |
pharmgkb | rs148057999 |
gwascentral | rs148057999 |
openSNP | rs148057999 |
23andMe | rs148057999 |
SNPshot | rs148057999 |
SNPdbe | rs148057999 |
MSV3d | rs148057999 |
GWAS Ctlg | rs148057999 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148057999(G;G) |
Alt | rs148057999(G;G) |
Reference | Rs148057999(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | CASQ2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.116280874A>G |
CLNSRC | |
CLNACC | RCV000170887.2, |