rs141554661
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs141554661(A;A) |
Make rs141554661(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 46932200 |
Gene | GOSR2 |
is a | snp |
is | mentioned by |
dbSNP | rs141554661 |
dbSNP (classic) | rs141554661 |
ClinGen | rs141554661 |
ebi | rs141554661 |
HLI | rs141554661 |
Exac | rs141554661 |
Gnomad | rs141554661 |
Varsome | rs141554661 |
LitVar | rs141554661 |
Map | rs141554661 |
PheGenI | rs141554661 |
Biobank | rs141554661 |
1000 genomes | rs141554661 |
hgdp | rs141554661 |
ensembl | rs141554661 |
geneview | rs141554661 |
scholar | rs141554661 |
rs141554661 | |
pharmgkb | rs141554661 |
gwascentral | rs141554661 |
openSNP | rs141554661 |
23andMe | rs141554661 |
SNPshot | rs141554661 |
SNPdbe | rs141554661 |
MSV3d | rs141554661 |
GWAS Ctlg | rs141554661 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141554661(A;A) |
Alt | rs141554661(A;A) |
Reference | Rs141554661(G;G) |
Significance | Pathogenic |
Disease | Epilepsy not provided |
Variation | info |
Gene | GOSR2 |
CLNDBN | Epilepsy, progressive myoclonic 6 not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.45009566G>A |
CLNSRC | |
CLNACC | RCV000194518.1, RCV000198527.1, RCV000439078.1, |