rs398122389
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398122389(-;TCATG) |
Make rs398122389(TCATG;TCATG) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 39411744 |
Gene | RPSA |
is a | snp |
is | mentioned by |
dbSNP | rs398122389 |
dbSNP (classic) | rs398122389 |
ClinGen | rs398122389 |
ebi | rs398122389 |
HLI | rs398122389 |
Exac | rs398122389 |
Gnomad | rs398122389 |
Varsome | rs398122389 |
LitVar | rs398122389 |
Map | rs398122389 |
PheGenI | rs398122389 |
Biobank | rs398122389 |
1000 genomes | rs398122389 |
hgdp | rs398122389 |
ensembl | rs398122389 |
geneview | rs398122389 |
scholar | rs398122389 |
rs398122389 | |
pharmgkb | rs398122389 |
gwascentral | rs398122389 |
openSNP | rs398122389 |
23andMe | rs398122389 |
SNPshot | rs398122389 |
SNPdbe | rs398122389 |
MSV3d | rs398122389 |
GWAS Ctlg | rs398122389 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122389(GTCAT;GTCAT) |
Alt | rs398122389(GTCAT;GTCAT) |
Reference | Rs398122389(-;-) |
Significance | Pathogenic |
Disease | Asplenia |
Variation | info |
Gene | RPSA |
CLNDBN | Asplenia, isolated congenital |
Reversed | 0 |
HGVS | NC_000003.11:g.39453231_39453235dupTCATG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000054823.22, |