rs1057519424
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1057519424(A;G) |
Make rs1057519424(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 8 |
Position | 37772753 |
Gene | PROSC |
is a | snp |
is | mentioned by |
dbSNP | rs1057519424 |
dbSNP (classic) | rs1057519424 |
ClinGen | rs1057519424 |
ebi | rs1057519424 |
HLI | rs1057519424 |
Exac | rs1057519424 |
Gnomad | rs1057519424 |
Varsome | rs1057519424 |
LitVar | rs1057519424 |
Map | rs1057519424 |
PheGenI | rs1057519424 |
Biobank | rs1057519424 |
1000 genomes | rs1057519424 |
hgdp | rs1057519424 |
ensembl | rs1057519424 |
geneview | rs1057519424 |
scholar | rs1057519424 |
rs1057519424 | |
pharmgkb | rs1057519424 |
gwascentral | rs1057519424 |
openSNP | rs1057519424 |
23andMe | rs1057519424 |
SNPshot | rs1057519424 |
SNPdbe | rs1057519424 |
MSV3d | rs1057519424 |
GWAS Ctlg | rs1057519424 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519424(G;G) |
Alt | rs1057519424(G;G) |
Reference | Rs1057519424(A;A) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | PROSC |
CLNDBN | Epilepsy, early-onset, vitamin b6-dependent |
Reversed | 0 |
HGVS | NC_000008.10:g.37630271A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000415559.1, |