rs114402678
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs114402678(A;A) |
Make rs114402678(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 67483797 |
Gene | CPA6, LOC102724708 |
is a | snp |
is | mentioned by |
dbSNP | rs114402678 |
dbSNP (classic) | rs114402678 |
ClinGen | rs114402678 |
ebi | rs114402678 |
HLI | rs114402678 |
Exac | rs114402678 |
Gnomad | rs114402678 |
Varsome | rs114402678 |
LitVar | rs114402678 |
Map | rs114402678 |
PheGenI | rs114402678 |
Biobank | rs114402678 |
1000 genomes | rs114402678 |
hgdp | rs114402678 |
ensembl | rs114402678 |
geneview | rs114402678 |
scholar | rs114402678 |
rs114402678 | |
pharmgkb | rs114402678 |
gwascentral | rs114402678 |
openSNP | rs114402678 |
23andMe | rs114402678 |
SNPshot | rs114402678 |
SNPdbe | rs114402678 |
MSV3d | rs114402678 |
GWAS Ctlg | rs114402678 |
GMAF | 0.002755 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs114402678(A;A) |
Alt | rs114402678(A;A) |
Reference | Rs114402678(G;G) |
Significance | Pathogenic |
Disease | Febrile seizures not specified |
Variation | info |
Gene | CPA6 LOC102724708 |
CLNDBN | Febrile seizures, familial, 11 not specified |
Reversed | 0 |
HGVS | NC_000008.10:g.68396032G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023776.3, RCV000180353.1, |