rs147844153
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs147844153(A;A) |
Make rs147844153(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 87518679 |
Gene | RARS2 |
is a | snp |
is | mentioned by |
dbSNP | rs147844153 |
dbSNP (classic) | rs147844153 |
ClinGen | rs147844153 |
ebi | rs147844153 |
HLI | rs147844153 |
Exac | rs147844153 |
Gnomad | rs147844153 |
Varsome | rs147844153 |
LitVar | rs147844153 |
Map | rs147844153 |
PheGenI | rs147844153 |
Biobank | rs147844153 |
1000 genomes | rs147844153 |
hgdp | rs147844153 |
ensembl | rs147844153 |
geneview | rs147844153 |
scholar | rs147844153 |
rs147844153 | |
pharmgkb | rs147844153 |
gwascentral | rs147844153 |
openSNP | rs147844153 |
23andMe | rs147844153 |
SNPshot | rs147844153 |
SNPdbe | rs147844153 |
MSV3d | rs147844153 |
GWAS Ctlg | rs147844153 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147844153(A;A) |
Alt | rs147844153(A;A) |
Reference | Rs147844153(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided Pontoneocerebellar hypoplasia |
Variation | info |
Gene | RARS2 |
CLNDBN | not provided Pontoneocerebellar hypoplasia |
Reversed | 0 |
HGVS | NC_000006.11:g.88228397G>A |
CLNSRC | |
CLNACC | RCV000197557.2, RCV000312542.1, |