rs1057519273
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057519273(C;G) |
Make rs1057519273(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 8 |
Position | 37765736 |
Gene | PROSC |
is a | snp |
is | mentioned by |
dbSNP | rs1057519273 |
dbSNP (classic) | rs1057519273 |
ClinGen | rs1057519273 |
ebi | rs1057519273 |
HLI | rs1057519273 |
Exac | rs1057519273 |
Gnomad | rs1057519273 |
Varsome | rs1057519273 |
LitVar | rs1057519273 |
Map | rs1057519273 |
PheGenI | rs1057519273 |
Biobank | rs1057519273 |
1000 genomes | rs1057519273 |
hgdp | rs1057519273 |
ensembl | rs1057519273 |
geneview | rs1057519273 |
scholar | rs1057519273 |
rs1057519273 | |
pharmgkb | rs1057519273 |
gwascentral | rs1057519273 |
openSNP | rs1057519273 |
23andMe | rs1057519273 |
SNPshot | rs1057519273 |
SNPdbe | rs1057519273 |
MSV3d | rs1057519273 |
GWAS Ctlg | rs1057519273 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519273(G;G) |
Alt | rs1057519273(G;G) |
Reference | Rs1057519273(C;C) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | PROSC |
CLNDBN | Epilepsy, early-onset, vitamin b6-dependent |
Reversed | 0 |
HGVS | NC_000008.10:g.37623254C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000415554.1, |