rs796053218
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs796053218(C;C) |
Make rs796053218(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 12 |
Position | 51790416 |
Gene | SCN8A |
is a | snp |
is | mentioned by |
dbSNP | rs796053218 |
dbSNP (classic) | rs796053218 |
ClinGen | rs796053218 |
ebi | rs796053218 |
HLI | rs796053218 |
Exac | rs796053218 |
Gnomad | rs796053218 |
Varsome | rs796053218 |
LitVar | rs796053218 |
Map | rs796053218 |
PheGenI | rs796053218 |
Biobank | rs796053218 |
1000 genomes | rs796053218 |
hgdp | rs796053218 |
ensembl | rs796053218 |
geneview | rs796053218 |
scholar | rs796053218 |
rs796053218 | |
pharmgkb | rs796053218 |
gwascentral | rs796053218 |
openSNP | rs796053218 |
23andMe | rs796053218 |
SNPshot | rs796053218 |
SNPdbe | rs796053218 |
MSV3d | rs796053218 |
GWAS Ctlg | rs796053218 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796053218(A;A) rs796053218(C;C) |
Alt | rs796053218(A;A) rs796053218(C;C) |
Reference | Rs796053218(T;T) |
Significance | Pathogenic |
Disease | not provided not specified |
Variation | info |
Gene | SCN8A |
CLNDBN | not provided not specified |
Reversed | 0 |
HGVS | NC_000012.11:g.52184200T>A; NC_000012.11:g.52184200T>C |
CLNSRC | |
CLNACC | RCV000420671.1, RCV000189279.1, |