rs796053060
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs796053060(-;GAGC) |
Make rs796053060(GAGC;GAGC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 166043969 |
Gene | SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs796053060 |
dbSNP (classic) | rs796053060 |
ClinGen | rs796053060 |
ebi | rs796053060 |
HLI | rs796053060 |
Exac | rs796053060 |
Gnomad | rs796053060 |
Varsome | rs796053060 |
LitVar | rs796053060 |
Map | rs796053060 |
PheGenI | rs796053060 |
Biobank | rs796053060 |
1000 genomes | rs796053060 |
hgdp | rs796053060 |
ensembl | rs796053060 |
geneview | rs796053060 |
scholar | rs796053060 |
rs796053060 | |
pharmgkb | rs796053060 |
gwascentral | rs796053060 |
openSNP | rs796053060 |
23andMe | rs796053060 |
SNPshot | rs796053060 |
SNPdbe | rs796053060 |
MSV3d | rs796053060 |
GWAS Ctlg | rs796053060 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796053060(GAGC;GAGC) |
Alt | rs796053060(GAGC;GAGC) |
Reference | Rs796053060(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | SCN1A |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.166900480_166900483dupGCTC |
CLNSRC | |
CLNACC | RCV000189040.1, |