rs1064794240
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AA) | 3 | Carrier of a pyridoxine-dependent epilepsy mutation |
(AA;AA) | 0 | common in clinvar |
Make rs1064794240(-;-) |
Chromosome | 5 |
Position | 126561094 |
Gene | ALDH7A1 |
is a | snp |
is | mentioned by |
dbSNP | rs1064794240 |
dbSNP (classic) | rs1064794240 |
ClinGen | rs1064794240 |
ebi | rs1064794240 |
HLI | rs1064794240 |
Exac | rs1064794240 |
Gnomad | rs1064794240 |
Varsome | rs1064794240 |
LitVar | rs1064794240 |
Map | rs1064794240 |
PheGenI | rs1064794240 |
Biobank | rs1064794240 |
1000 genomes | rs1064794240 |
hgdp | rs1064794240 |
ensembl | rs1064794240 |
geneview | rs1064794240 |
scholar | rs1064794240 |
rs1064794240 | |
pharmgkb | rs1064794240 |
gwascentral | rs1064794240 |
openSNP | rs1064794240 |
23andMe | rs1064794240 |
SNPshot | rs1064794240 |
SNPdbe | rs1064794240 |
MSV3d | rs1064794240 |
GWAS Ctlg | rs1064794240 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs1064794240(-;-) |
Alt | rs1064794240(-;-) |
Reference | Rs1064794240(AA;AA) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | ALDH7A1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000005.9:g.125896786_125896787delTT |
CLNSRC | |
CLNACC | RCV000483865.1, |