rs796053223
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs796053223(A;T) |
Make rs796053223(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 12 |
Position | 51806422 |
Gene | SCN8A |
is a | snp |
is | mentioned by |
dbSNP | rs796053223 |
dbSNP (classic) | rs796053223 |
ClinGen | rs796053223 |
ebi | rs796053223 |
HLI | rs796053223 |
Exac | rs796053223 |
Gnomad | rs796053223 |
Varsome | rs796053223 |
LitVar | rs796053223 |
Map | rs796053223 |
PheGenI | rs796053223 |
Biobank | rs796053223 |
1000 genomes | rs796053223 |
hgdp | rs796053223 |
ensembl | rs796053223 |
geneview | rs796053223 |
scholar | rs796053223 |
rs796053223 | |
pharmgkb | rs796053223 |
gwascentral | rs796053223 |
openSNP | rs796053223 |
23andMe | rs796053223 |
SNPshot | rs796053223 |
SNPdbe | rs796053223 |
MSV3d | rs796053223 |
GWAS Ctlg | rs796053223 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796053223(T;T) |
Alt | rs796053223(T;T) |
Reference | Rs796053223(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | SCN8A |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.52200206A>T |
CLNSRC | |
CLNACC | RCV000189284.2, |