rs764618040
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs764618040(C;T) |
Make rs764618040(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 119726868 |
Gene | LOC105378936, PHGDH |
is a | snp |
is | mentioned by |
dbSNP | rs764618040 |
dbSNP (classic) | rs764618040 |
ClinGen | rs764618040 |
ebi | rs764618040 |
HLI | rs764618040 |
Exac | rs764618040 |
Gnomad | rs764618040 |
Varsome | rs764618040 |
LitVar | rs764618040 |
Map | rs764618040 |
PheGenI | rs764618040 |
Biobank | rs764618040 |
1000 genomes | rs764618040 |
hgdp | rs764618040 |
ensembl | rs764618040 |
geneview | rs764618040 |
scholar | rs764618040 |
rs764618040 | |
pharmgkb | rs764618040 |
gwascentral | rs764618040 |
openSNP | rs764618040 |
23andMe | rs764618040 |
SNPshot | rs764618040 |
SNPdbe | rs764618040 |
MSV3d | rs764618040 |
GWAS Ctlg | rs764618040 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764618040(T;T) |
Alt | rs764618040(T;T) |
Reference | Rs764618040(C;C) |
Significance | Probable-Pathogenic |
Disease | Epileptic encephalopathy Seizures |
Variation | info |
Gene | PHGDH |
CLNDBN | Epileptic encephalopathy Seizures |
Reversed | 0 |
HGVS | NC_000001.10:g.120269491C>T |
CLNSRC | |
CLNACC | RCV000414985.1, |