rs587780563
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587780563(C;T) |
Make rs587780563(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 153932111 |
Gene | NAA10 |
is a | snp |
is | mentioned by |
dbSNP | rs587780563 |
dbSNP (classic) | rs587780563 |
ClinGen | rs587780563 |
ebi | rs587780563 |
HLI | rs587780563 |
Exac | rs587780563 |
Gnomad | rs587780563 |
Varsome | rs587780563 |
LitVar | rs587780563 |
Map | rs587780563 |
PheGenI | rs587780563 |
Biobank | rs587780563 |
1000 genomes | rs587780563 |
hgdp | rs587780563 |
ensembl | rs587780563 |
geneview | rs587780563 |
scholar | rs587780563 |
rs587780563 | |
pharmgkb | rs587780563 |
gwascentral | rs587780563 |
openSNP | rs587780563 |
23andMe | rs587780563 |
SNPshot | rs587780563 |
SNPdbe | rs587780563 |
MSV3d | rs587780563 |
GWAS Ctlg | rs587780563 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587780563(T;T) |
Alt | rs587780563(T;T) |
Reference | Rs587780563(C;C) |
Significance | Pathogenic |
Disease | N-terminal acetyltransferase deficiency not provided |
Variation | info |
Gene | NAA10 |
CLNDBN | N-terminal acetyltransferase deficiency not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.153197564G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128609.4, RCV000413890.1, |