rs797044868
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797044868(C;T) |
Make rs797044868(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 153932410 |
Gene | NAA10 |
is a | snp |
is | mentioned by |
dbSNP | rs797044868 |
dbSNP (classic) | rs797044868 |
ClinGen | rs797044868 |
ebi | rs797044868 |
HLI | rs797044868 |
Exac | rs797044868 |
Gnomad | rs797044868 |
Varsome | rs797044868 |
LitVar | rs797044868 |
Map | rs797044868 |
PheGenI | rs797044868 |
Biobank | rs797044868 |
1000 genomes | rs797044868 |
hgdp | rs797044868 |
ensembl | rs797044868 |
geneview | rs797044868 |
scholar | rs797044868 |
rs797044868 | |
pharmgkb | rs797044868 |
gwascentral | rs797044868 |
openSNP | rs797044868 |
23andMe | rs797044868 |
SNPshot | rs797044868 |
SNPdbe | rs797044868 |
MSV3d | rs797044868 |
GWAS Ctlg | rs797044868 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044868(T;T) |
Alt | rs797044868(T;T) |
Reference | Rs797044868(C;C) |
Significance | Pathogenic |
Disease | Inborn genetic diseases N-terminal acetyltransferase deficiency not provided |
Variation | info |
Gene | NAA10 |
CLNDBN | Inborn genetic diseases N-terminal acetyltransferase deficiency not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.153197863G>A |
CLNSRC | Friedrich-Alexander-Universität Erlangen-Nürnberg |
CLNACC | RCV000190675.1, RCV000225365.1, RCV000255490.1, |