rs886039903
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs886039903(A;A) |
Make rs886039903(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 3 |
Position | 192335434 |
Gene | FGF12 |
is a | snp |
is | mentioned by |
dbSNP | rs886039903 |
dbSNP (classic) | rs886039903 |
ClinGen | rs886039903 |
ebi | rs886039903 |
HLI | rs886039903 |
Exac | rs886039903 |
Gnomad | rs886039903 |
Varsome | rs886039903 |
LitVar | rs886039903 |
Map | rs886039903 |
PheGenI | rs886039903 |
Biobank | rs886039903 |
1000 genomes | rs886039903 |
hgdp | rs886039903 |
ensembl | rs886039903 |
geneview | rs886039903 |
scholar | rs886039903 |
rs886039903 | |
pharmgkb | rs886039903 |
gwascentral | rs886039903 |
openSNP | rs886039903 |
23andMe | rs886039903 |
SNPshot | rs886039903 |
SNPdbe | rs886039903 |
MSV3d | rs886039903 |
GWAS Ctlg | rs886039903 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886039903(A;A) |
Alt | rs886039903(A;A) |
Reference | Rs886039903(G;G) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | FGF12 |
CLNDBN | Epileptic encephalopathy, early infantile, 47 |
Reversed | 1 |
HGVS | NC_000003.11:g.192053223C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000258032.3, |