rs398123114
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTTT;CTTT) | 0 | common in clinvar |
Make rs398123114(-;-) |
Make rs398123114(-;CTTT) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 114688745 |
Gene | AMPD1 |
is a | snp |
is | mentioned by |
dbSNP | rs398123114 |
dbSNP (classic) | rs398123114 |
ClinGen | rs398123114 |
ebi | rs398123114 |
HLI | rs398123114 |
Exac | rs398123114 |
Gnomad | rs398123114 |
Varsome | rs398123114 |
LitVar | rs398123114 |
Map | rs398123114 |
PheGenI | rs398123114 |
Biobank | rs398123114 |
1000 genomes | rs398123114 |
hgdp | rs398123114 |
ensembl | rs398123114 |
geneview | rs398123114 |
scholar | rs398123114 |
rs398123114 | |
pharmgkb | rs398123114 |
gwascentral | rs398123114 |
openSNP | rs398123114 |
23andMe | rs398123114 |
SNPshot | rs398123114 |
SNPdbe | rs398123114 |
MSV3d | rs398123114 |
GWAS Ctlg | rs398123114 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123114(-;-) |
Alt | rs398123114(-;-) |
Reference | Rs398123114(CTTT;CTTT) |
Significance | Pathogenic |
Disease | Muscle AMP deaminase deficiency |
Variation | info |
Gene | AMPD1 |
CLNDBN | Muscle AMP deaminase deficiency |
Reversed | 1 |
HGVS | NC_000001.10:g.115231366_115231369delAAAG |
CLNSRC | HGMD |
CLNACC | RCV000077972.4, |