rs794727997
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794727997(G;T) |
Make rs794727997(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 103503158 |
Gene | LOC101927870, RELN |
is a | snp |
is | mentioned by |
dbSNP | rs794727997 |
dbSNP (classic) | rs794727997 |
ClinGen | rs794727997 |
ebi | rs794727997 |
HLI | rs794727997 |
Exac | rs794727997 |
Gnomad | rs794727997 |
Varsome | rs794727997 |
LitVar | rs794727997 |
Map | rs794727997 |
PheGenI | rs794727997 |
Biobank | rs794727997 |
1000 genomes | rs794727997 |
hgdp | rs794727997 |
ensembl | rs794727997 |
geneview | rs794727997 |
scholar | rs794727997 |
rs794727997 | |
pharmgkb | rs794727997 |
gwascentral | rs794727997 |
openSNP | rs794727997 |
23andMe | rs794727997 |
SNPshot | rs794727997 |
SNPdbe | rs794727997 |
MSV3d | rs794727997 |
GWAS Ctlg | rs794727997 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727997(A;A) rs794727997(T;T) |
Alt | rs794727997(A;A) rs794727997(T;T) |
Reference | Rs794727997(G;G) |
Significance | Pathogenic |
Disease | Epilepsy not specified |
Variation | info |
Gene | LOC101927870 RELN |
CLNDBN | Epilepsy, familial temporal lobe, 7 not specified |
Reversed | 1 |
HGVS | NC_000007.13:g.103143605C>A; NC_000007.13:g.103143605C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000180786.2, RCV000297527.1, |