rs794727996
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794727996(A;A) |
Make rs794727996(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 103635498 |
Gene | RELN |
is a | snp |
is | mentioned by |
dbSNP | rs794727996 |
dbSNP (classic) | rs794727996 |
ClinGen | rs794727996 |
ebi | rs794727996 |
HLI | rs794727996 |
Exac | rs794727996 |
Gnomad | rs794727996 |
Varsome | rs794727996 |
LitVar | rs794727996 |
Map | rs794727996 |
PheGenI | rs794727996 |
Biobank | rs794727996 |
1000 genomes | rs794727996 |
hgdp | rs794727996 |
ensembl | rs794727996 |
geneview | rs794727996 |
scholar | rs794727996 |
rs794727996 | |
pharmgkb | rs794727996 |
gwascentral | rs794727996 |
openSNP | rs794727996 |
23andMe | rs794727996 |
SNPshot | rs794727996 |
SNPdbe | rs794727996 |
MSV3d | rs794727996 |
GWAS Ctlg | rs794727996 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727996(A;A) |
Alt | rs794727996(A;A) |
Reference | Rs794727996(C;C) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | RELN |
CLNDBN | Epilepsy, familial temporal lobe, 7 |
Reversed | 1 |
HGVS | NC_000007.13:g.103275945G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000180785.2, |