rs72550247
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs72550247(A;A) |
Make rs72550247(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 35039125 |
Gene | HPN, SCN1B |
is a | snp |
is | mentioned by |
dbSNP | rs72550247 |
dbSNP (classic) | rs72550247 |
ClinGen | rs72550247 |
ebi | rs72550247 |
HLI | rs72550247 |
Exac | rs72550247 |
Gnomad | rs72550247 |
Varsome | rs72550247 |
LitVar | rs72550247 |
Map | rs72550247 |
PheGenI | rs72550247 |
Biobank | rs72550247 |
1000 genomes | rs72550247 |
hgdp | rs72550247 |
ensembl | rs72550247 |
geneview | rs72550247 |
scholar | rs72550247 |
rs72550247 | |
pharmgkb | rs72550247 |
gwascentral | rs72550247 |
openSNP | rs72550247 |
23andMe | rs72550247 |
SNPshot | rs72550247 |
SNPdbe | rs72550247 |
MSV3d | rs72550247 |
GWAS Ctlg | rs72550247 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72550247(A;A) |
Alt | rs72550247(A;A) |
Reference | Rs72550247(G;G) |
Significance | Pathogenic |
Disease | Atrial fibrillation not specified Death in early adulthood |
Variation | info |
Gene | SCN1B HPN |
CLNDBN | Atrial fibrillation, familial, 13 not specified Death in early adulthood |
Reversed | 0 |
HGVS | NC_000019.9:g.35530029G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000054538.2, RCV000171064.3, RCV000234993.1, |