rs397514680
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397514680(A;A) |
Make rs397514680(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 47574336 |
Gene | SYN1 |
is a | snp |
is | mentioned by |
dbSNP | rs397514680 |
dbSNP (classic) | rs397514680 |
ClinGen | rs397514680 |
ebi | rs397514680 |
HLI | rs397514680 |
Exac | rs397514680 |
Gnomad | rs397514680 |
Varsome | rs397514680 |
LitVar | rs397514680 |
Map | rs397514680 |
PheGenI | rs397514680 |
Biobank | rs397514680 |
1000 genomes | rs397514680 |
hgdp | rs397514680 |
ensembl | rs397514680 |
geneview | rs397514680 |
scholar | rs397514680 |
rs397514680 | |
pharmgkb | rs397514680 |
gwascentral | rs397514680 |
openSNP | rs397514680 |
23andMe | rs397514680 |
SNPshot | rs397514680 |
SNPdbe | rs397514680 |
MSV3d | rs397514680 |
GWAS Ctlg | rs397514680 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514680(A;A) rs397514680(C;C) |
Alt | rs397514680(A;A) rs397514680(C;C) |
Reference | Rs397514680(G;G) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | SYN1 |
CLNDBN | Epilepsy, X-linked, with variable learning disabilities and behavior disorders |
Reversed | 1 |
HGVS | NC_000023.10:g.47433735C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000034816.6, |