rs387906881
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387906881(G;T) |
Make rs387906881(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 46935122 |
Gene | GOSR2 |
is a | snp |
is | mentioned by |
dbSNP | rs387906881 |
dbSNP (classic) | rs387906881 |
ClinGen | rs387906881 |
ebi | rs387906881 |
HLI | rs387906881 |
Exac | rs387906881 |
Gnomad | rs387906881 |
Varsome | rs387906881 |
LitVar | rs387906881 |
Map | rs387906881 |
PheGenI | rs387906881 |
Biobank | rs387906881 |
1000 genomes | rs387906881 |
hgdp | rs387906881 |
ensembl | rs387906881 |
geneview | rs387906881 |
scholar | rs387906881 |
rs387906881 | |
pharmgkb | rs387906881 |
gwascentral | rs387906881 |
openSNP | rs387906881 |
23andMe | rs387906881 |
SNPshot | rs387906881 |
SNPdbe | rs387906881 |
MSV3d | rs387906881 |
GWAS Ctlg | rs387906881 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906881(T;T) |
Alt | rs387906881(T;T) |
Reference | Rs387906881(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.45012488G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023359.5, RCV000198527.1, RCV000478768.1, |