rs754032480
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs754032480(A;A) |
Make rs754032480(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 166073540 |
Gene | SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs754032480 |
dbSNP (classic) | rs754032480 |
ClinGen | rs754032480 |
ebi | rs754032480 |
HLI | rs754032480 |
Exac | rs754032480 |
Gnomad | rs754032480 |
Varsome | rs754032480 |
LitVar | rs754032480 |
Map | rs754032480 |
PheGenI | rs754032480 |
Biobank | rs754032480 |
1000 genomes | rs754032480 |
hgdp | rs754032480 |
ensembl | rs754032480 |
geneview | rs754032480 |
scholar | rs754032480 |
rs754032480 | |
pharmgkb | rs754032480 |
gwascentral | rs754032480 |
openSNP | rs754032480 |
23andMe | rs754032480 |
SNPshot | rs754032480 |
SNPdbe | rs754032480 |
MSV3d | rs754032480 |
GWAS Ctlg | rs754032480 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs754032480(A;A) |
Alt | rs754032480(A;A) |
Reference | Rs754032480(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | SCN1A |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.166930050G>A |
CLNSRC | |
CLNACC | RCV000188919.1, |