rs141138948
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs141138948(G;G) |
Make rs141138948(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 37783993 |
Gene | EXOSC3 |
is a | snp |
is | mentioned by |
dbSNP | rs141138948 |
dbSNP (classic) | rs141138948 |
ClinGen | rs141138948 |
ebi | rs141138948 |
HLI | rs141138948 |
Exac | rs141138948 |
Gnomad | rs141138948 |
Varsome | rs141138948 |
LitVar | rs141138948 |
Map | rs141138948 |
PheGenI | rs141138948 |
Biobank | rs141138948 |
1000 genomes | rs141138948 |
hgdp | rs141138948 |
ensembl | rs141138948 |
geneview | rs141138948 |
scholar | rs141138948 |
rs141138948 | |
pharmgkb | rs141138948 |
gwascentral | rs141138948 |
openSNP | rs141138948 |
23andMe | rs141138948 |
SNPshot | rs141138948 |
SNPdbe | rs141138948 |
MSV3d | rs141138948 |
GWAS Ctlg | rs141138948 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141138948(G;G) |
Alt | rs141138948(G;G) |
Reference | Rs141138948(T;T) |
Significance | Other |
Disease | Pontocerebellar hypoplasia Inborn genetic diseases not provided |
Variation | info |
Gene | EXOSC3 |
CLNDBN | Pontocerebellar hypoplasia, type 1b Inborn genetic diseases not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.37783990T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000024366.4, RCV000190687.1, RCV000224817.2, |