rs797044996
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs797044996(C;C) |
Make rs797044996(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 93758268 |
Gene | LGI1, LOC101927013 |
is a | snp |
is | mentioned by |
dbSNP | rs797044996 |
dbSNP (classic) | rs797044996 |
ClinGen | rs797044996 |
ebi | rs797044996 |
HLI | rs797044996 |
Exac | rs797044996 |
Gnomad | rs797044996 |
Varsome | rs797044996 |
LitVar | rs797044996 |
Map | rs797044996 |
PheGenI | rs797044996 |
Biobank | rs797044996 |
1000 genomes | rs797044996 |
hgdp | rs797044996 |
ensembl | rs797044996 |
geneview | rs797044996 |
scholar | rs797044996 |
rs797044996 | |
pharmgkb | rs797044996 |
gwascentral | rs797044996 |
openSNP | rs797044996 |
23andMe | rs797044996 |
SNPshot | rs797044996 |
SNPdbe | rs797044996 |
MSV3d | rs797044996 |
GWAS Ctlg | rs797044996 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044996(C;C) rs797044996(G;G) |
Alt | rs797044996(C;C) rs797044996(G;G) |
Reference | Rs797044996(T;T) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | LGI1 LOC101927013 |
CLNDBN | Epilepsy, lateral temporal lobe, autosomal dominant |
Reversed | 0 |
HGVS | NC_000010.10:g.95518025T>C; NC_000010.10:g.95518025T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000195223.1, RCV000193106.1, |