rs141094096
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs141094096(A;A) |
Make rs141094096(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 13768642 |
Gene | MRI1 |
is a | snp |
is | mentioned by |
dbSNP | rs141094096 |
dbSNP (classic) | rs141094096 |
ClinGen | rs141094096 |
ebi | rs141094096 |
HLI | rs141094096 |
Exac | rs141094096 |
Gnomad | rs141094096 |
Varsome | rs141094096 |
LitVar | rs141094096 |
Map | rs141094096 |
PheGenI | rs141094096 |
Biobank | rs141094096 |
1000 genomes | rs141094096 |
hgdp | rs141094096 |
ensembl | rs141094096 |
geneview | rs141094096 |
scholar | rs141094096 |
rs141094096 | |
pharmgkb | rs141094096 |
gwascentral | rs141094096 |
openSNP | rs141094096 |
23andMe | rs141094096 |
SNPshot | rs141094096 |
SNPdbe | rs141094096 |
MSV3d | rs141094096 |
GWAS Ctlg | rs141094096 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141094096(A;A) |
Alt | rs141094096(A;A) |
Reference | Rs141094096(G;G) |
Significance | Probable-Pathogenic |
Disease | Infantile epilepsy Severe cystic degeneration of the brain |
Variation | info |
Gene | MRI1 |
CLNDBN | Infantile epilepsy Severe cystic degeneration of the brain |
Reversed | 0 |
HGVS | NC_000019.9:g.13879456G>A |
CLNSRC | |
CLNACC | RCV000162126.1, |