rs147623570
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs147623570(C;T) |
Make rs147623570(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 87902425 |
Gene | CA5A |
is a | snp |
is | mentioned by |
dbSNP | rs147623570 |
dbSNP (classic) | rs147623570 |
ClinGen | rs147623570 |
ebi | rs147623570 |
HLI | rs147623570 |
Exac | rs147623570 |
Gnomad | rs147623570 |
Varsome | rs147623570 |
LitVar | rs147623570 |
Map | rs147623570 |
PheGenI | rs147623570 |
Biobank | rs147623570 |
1000 genomes | rs147623570 |
hgdp | rs147623570 |
ensembl | rs147623570 |
geneview | rs147623570 |
scholar | rs147623570 |
rs147623570 | |
pharmgkb | rs147623570 |
gwascentral | rs147623570 |
openSNP | rs147623570 |
23andMe | rs147623570 |
SNPshot | rs147623570 |
SNPdbe | rs147623570 |
MSV3d | rs147623570 |
GWAS Ctlg | rs147623570 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147623570(T;T) |
Alt | rs147623570(T;T) |
Reference | Rs147623570(C;C) |
Significance | Pathogenic |
Disease | Carbonic anhydrase VA deficiency not provided |
Variation | info |
Gene | CA5A |
CLNDBN | Carbonic anhydrase VA deficiency, hyperammonemia due to not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.87936031C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000114947.3, RCV000483966.1, |