rs121917753
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121917753(A;A) |
Make rs121917753(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 165373331 |
Gene | SCN2A |
is a | snp |
is | mentioned by |
dbSNP | rs121917753 |
dbSNP (classic) | rs121917753 |
ClinGen | rs121917753 |
ebi | rs121917753 |
HLI | rs121917753 |
Exac | rs121917753 |
Gnomad | rs121917753 |
Varsome | rs121917753 |
LitVar | rs121917753 |
Map | rs121917753 |
PheGenI | rs121917753 |
Biobank | rs121917753 |
1000 genomes | rs121917753 |
hgdp | rs121917753 |
ensembl | rs121917753 |
geneview | rs121917753 |
scholar | rs121917753 |
rs121917753 | |
pharmgkb | rs121917753 |
gwascentral | rs121917753 |
openSNP | rs121917753 |
23andMe | rs121917753 |
SNPshot | rs121917753 |
SNPdbe | rs121917753 |
MSV3d | rs121917753 |
GWAS Ctlg | rs121917753 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917753(A;A) rs121917753(T;T) |
Alt | rs121917753(A;A) rs121917753(T;T) |
Reference | Rs121917753(G;G) |
Significance | Pathogenic |
Disease | Benign familial neonatal-infantile seizures not provided |
Variation | info |
Gene | SCN2A |
CLNDBN | Benign familial neonatal-infantile seizures not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.166229841G>A; NC_000002.11:g.166229841G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013740.23, RCV000189142.3, RCV000444205.1, |