rs387907246
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of progressive myoclonus epilepsy allele |
Make rs387907246(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 66638912 |
Gene | KCTD7 |
is a | snp |
is | mentioned by |
dbSNP | rs387907246 |
dbSNP (classic) | rs387907246 |
ClinGen | rs387907246 |
ebi | rs387907246 |
HLI | rs387907246 |
Exac | rs387907246 |
Gnomad | rs387907246 |
Varsome | rs387907246 |
LitVar | rs387907246 |
Map | rs387907246 |
PheGenI | rs387907246 |
Biobank | rs387907246 |
1000 genomes | rs387907246 |
hgdp | rs387907246 |
ensembl | rs387907246 |
geneview | rs387907246 |
scholar | rs387907246 |
rs387907246 | |
pharmgkb | rs387907246 |
gwascentral | rs387907246 |
openSNP | rs387907246 |
23andMe | rs387907246 |
SNPshot | rs387907246 |
SNPdbe | rs387907246 |
MSV3d | rs387907246 |
GWAS Ctlg | rs387907246 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs387907246(T;T) |
Alt | rs387907246(T;T) |
Reference | Rs387907246(C;C) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | KCTD7 |
CLNDBN | Epilepsy, progressive myoclonic, 3, with intracellular inclusions |
Reversed | 0 |
HGVS | NC_000007.13:g.66103899C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000030608.4, |