rs1060502608
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1060502608(A;C) |
Make rs1060502608(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 46608584 |
Gene | CALM3, LOC107985310 |
is a | snp |
is | mentioned by |
dbSNP | rs1060502608 |
dbSNP (classic) | rs1060502608 |
ClinGen | rs1060502608 |
ebi | rs1060502608 |
HLI | rs1060502608 |
Exac | rs1060502608 |
Gnomad | rs1060502608 |
Varsome | rs1060502608 |
LitVar | rs1060502608 |
Map | rs1060502608 |
PheGenI | rs1060502608 |
Biobank | rs1060502608 |
1000 genomes | rs1060502608 |
hgdp | rs1060502608 |
ensembl | rs1060502608 |
geneview | rs1060502608 |
scholar | rs1060502608 |
rs1060502608 | |
pharmgkb | rs1060502608 |
gwascentral | rs1060502608 |
openSNP | rs1060502608 |
23andMe | rs1060502608 |
SNPshot | rs1060502608 |
SNPdbe | rs1060502608 |
MSV3d | rs1060502608 |
GWAS Ctlg | rs1060502608 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060502608(C;C) |
Alt | rs1060502608(C;C) |
Reference | Rs1060502608(A;A) |
Significance | Pathogenic |
Disease | Long QT syndrome 1 |
Variation | info |
Gene | CALM3 |
CLNDBN | Long QT syndrome 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.47111841A>C |
CLNSRC | |
CLNACC | RCV000475293.1, |