rs727502772
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727502772(G;T) |
Make rs727502772(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 76166249 |
Gene | SCARB2 |
is a | snp |
is | mentioned by |
dbSNP | rs727502772 |
dbSNP (classic) | rs727502772 |
ClinGen | rs727502772 |
ebi | rs727502772 |
HLI | rs727502772 |
Exac | rs727502772 |
Gnomad | rs727502772 |
Varsome | rs727502772 |
LitVar | rs727502772 |
Map | rs727502772 |
PheGenI | rs727502772 |
Biobank | rs727502772 |
1000 genomes | rs727502772 |
hgdp | rs727502772 |
ensembl | rs727502772 |
geneview | rs727502772 |
scholar | rs727502772 |
rs727502772 | |
pharmgkb | rs727502772 |
gwascentral | rs727502772 |
openSNP | rs727502772 |
23andMe | rs727502772 |
SNPshot | rs727502772 |
SNPdbe | rs727502772 |
MSV3d | rs727502772 |
GWAS Ctlg | rs727502772 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727502772(T;T) |
Alt | rs727502772(T;T) |
Reference | Rs727502772(G;G) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | SCARB2 |
CLNDBN | Epilepsy, progressive myoclonic 4, with or without renal failure |
Reversed | 1 |
HGVS | NC_000004.11:g.77087402C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007801.4, |