rs1138484
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1138484(A;G) |
Make rs1138484(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 85861188 |
Gene | ST3GAL5 |
is a | snp |
is | mentioned by |
dbSNP | rs1138484 |
dbSNP (classic) | rs1138484 |
ClinGen | rs1138484 |
ebi | rs1138484 |
HLI | rs1138484 |
Exac | rs1138484 |
Gnomad | rs1138484 |
Varsome | rs1138484 |
LitVar | rs1138484 |
Map | rs1138484 |
PheGenI | rs1138484 |
Biobank | rs1138484 |
1000 genomes | rs1138484 |
hgdp | rs1138484 |
ensembl | rs1138484 |
geneview | rs1138484 |
scholar | rs1138484 |
rs1138484 | |
pharmgkb | rs1138484 |
gwascentral | rs1138484 |
openSNP | rs1138484 |
23andMe | rs1138484 |
SNPshot | rs1138484 |
SNPdbe | rs1138484 |
MSV3d | rs1138484 |
GWAS Ctlg | rs1138484 |
Merged from | Rs3731824 |
GMAF | 0.185 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1138484(G;G) |
Alt | rs1138484(G;G) |
Reference | Rs1138484(A;A) |
Significance | Non-pathogenic |
Disease | not specified Amish infantile epilepsy syndrome |
Variation | info |
Gene | ST3GAL5 |
CLNDBN | not specified Amish infantile epilepsy syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.86088311T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000118422.2, RCV000305958.1, |