rs878853263
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs878853263(A;A) |
Make rs878853263(A;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 153932073 |
Gene | NAA10 |
is a | snp |
is | mentioned by |
dbSNP | rs878853263 |
dbSNP (classic) | rs878853263 |
ClinGen | rs878853263 |
ebi | rs878853263 |
HLI | rs878853263 |
Exac | rs878853263 |
Gnomad | rs878853263 |
Varsome | rs878853263 |
LitVar | rs878853263 |
Map | rs878853263 |
PheGenI | rs878853263 |
Biobank | rs878853263 |
1000 genomes | rs878853263 |
hgdp | rs878853263 |
ensembl | rs878853263 |
geneview | rs878853263 |
scholar | rs878853263 |
rs878853263 | |
pharmgkb | rs878853263 |
gwascentral | rs878853263 |
openSNP | rs878853263 |
23andMe | rs878853263 |
SNPshot | rs878853263 |
SNPdbe | rs878853263 |
MSV3d | rs878853263 |
GWAS Ctlg | rs878853263 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853263(A;A) rs878853263(G;G) |
Alt | rs878853263(A;A) rs878853263(G;G) |
Reference | Rs878853263(T;T) |
Significance | Pathogenic |
Disease | not provided N-terminal acetyltransferase deficiency |
Variation | info |
Gene | NAA10 |
CLNDBN | not provided N-terminal acetyltransferase deficiency |
Reversed | 1 |
HGVS | NC_000023.10:g.153197526A>C; NC_000023.10:g.153197526A>T |
CLNSRC | |
CLNACC | RCV000340214.1, RCV000225366.1, RCV000414068.1, |