rs199744595
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199744595(C;T) |
Make rs199744595(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 90404693 |
Gene | CALM1 |
is a | snp |
is | mentioned by |
dbSNP | rs199744595 |
dbSNP (classic) | rs199744595 |
ClinGen | rs199744595 |
ebi | rs199744595 |
HLI | rs199744595 |
Exac | rs199744595 |
Gnomad | rs199744595 |
Varsome | rs199744595 |
LitVar | rs199744595 |
Map | rs199744595 |
PheGenI | rs199744595 |
Biobank | rs199744595 |
1000 genomes | rs199744595 |
hgdp | rs199744595 |
ensembl | rs199744595 |
geneview | rs199744595 |
scholar | rs199744595 |
rs199744595 | |
pharmgkb | rs199744595 |
gwascentral | rs199744595 |
openSNP | rs199744595 |
23andMe | rs199744595 |
SNPshot | rs199744595 |
SNPdbe | rs199744595 |
MSV3d | rs199744595 |
GWAS Ctlg | rs199744595 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199744595(G;G) rs199744595(T;T) |
Alt | rs199744595(G;G) rs199744595(T;T) |
Reference | Rs199744595(C;C) |
Significance | Pathogenic |
Disease | Long QT syndrome 14 |
Variation | info |
Gene | CALM1 |
CLNDBN | Long QT syndrome 14 |
Reversed | 0 |
HGVS | NC_000014.8:g.90871037C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000162063.4, |