rs12918964
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs12918964(C;T) |
Make rs12918964(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 47698565 |
Gene | PHKB |
is a | snp |
is | mentioned by |
dbSNP | rs12918964 |
dbSNP (classic) | rs12918964 |
ClinGen | rs12918964 |
ebi | rs12918964 |
HLI | rs12918964 |
Exac | rs12918964 |
Gnomad | rs12918964 |
Varsome | rs12918964 |
LitVar | rs12918964 |
Map | rs12918964 |
PheGenI | rs12918964 |
Biobank | rs12918964 |
1000 genomes | rs12918964 |
hgdp | rs12918964 |
ensembl | rs12918964 |
geneview | rs12918964 |
scholar | rs12918964 |
rs12918964 | |
pharmgkb | rs12918964 |
gwascentral | rs12918964 |
openSNP | rs12918964 |
23andMe | rs12918964 |
SNPshot | rs12918964 |
SNPdbe | rs12918964 |
MSV3d | rs12918964 |
GWAS Ctlg | rs12918964 |
GMAF | 0.001377 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs12918964(T;T) |
Alt | rs12918964(T;T) |
Reference | Rs12918964(C;C) |
Significance | Non-pathogenic |
Disease | Glycogen phosphorylase kinase deficiency not specified |
Variation | info |
Gene | PHKB |
CLNDBN | Glycogen phosphorylase kinase deficiency not specified |
Reversed | 0 |
HGVS | NC_000016.9:g.47732476C>T |
CLNSRC | |
CLNACC | RCV000380256.1, RCV000429403.1, |