rs199473618
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199473618(A;A) |
Make rs199473618(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 38554498 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs199473618 |
dbSNP (classic) | rs199473618 |
ClinGen | rs199473618 |
ebi | rs199473618 |
HLI | rs199473618 |
Exac | rs199473618 |
Gnomad | rs199473618 |
Varsome | rs199473618 |
LitVar | rs199473618 |
Map | rs199473618 |
PheGenI | rs199473618 |
Biobank | rs199473618 |
1000 genomes | rs199473618 |
hgdp | rs199473618 |
ensembl | rs199473618 |
geneview | rs199473618 |
scholar | rs199473618 |
rs199473618 | |
pharmgkb | rs199473618 |
gwascentral | rs199473618 |
openSNP | rs199473618 |
23andMe | rs199473618 |
SNPshot | rs199473618 |
SNPdbe | rs199473618 |
MSV3d | rs199473618 |
GWAS Ctlg | rs199473618 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473618(A;A) rs199473618(T;T) |
Alt | rs199473618(A;A) rs199473618(T;T) |
Reference | Rs199473618(G;G) |
Significance | Untested |
Disease | Long QT syndrome Congenital long QT syndrome not specified |
Variation | info |
Gene | SCN5A |
CLNDBN | Long QT syndrome Congenital long QT syndrome not specified |
Reversed | 1 |
HGVS | NC_000003.11:g.38595989C>A; NC_000003.11:g.38595989C>T |
CLNSRC | ClinVar University of Washington |
CLNACC | RCV000171698.1, RCV000058693.3, RCV000148850.1, RCV000183081.1, |