rs606231285
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs606231285(A;A) |
Make rs606231285(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 37000810 |
Gene | ALG5, EXOSC8 |
is a | snp |
is | mentioned by |
dbSNP | rs606231285 |
dbSNP (classic) | rs606231285 |
ClinGen | rs606231285 |
ebi | rs606231285 |
HLI | rs606231285 |
Exac | rs606231285 |
Gnomad | rs606231285 |
Varsome | rs606231285 |
LitVar | rs606231285 |
Map | rs606231285 |
PheGenI | rs606231285 |
Biobank | rs606231285 |
1000 genomes | rs606231285 |
hgdp | rs606231285 |
ensembl | rs606231285 |
geneview | rs606231285 |
scholar | rs606231285 |
rs606231285 | |
pharmgkb | rs606231285 |
gwascentral | rs606231285 |
openSNP | rs606231285 |
23andMe | rs606231285 |
SNPshot | rs606231285 |
SNPdbe | rs606231285 |
MSV3d | rs606231285 |
GWAS Ctlg | rs606231285 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231285(A;A) |
Alt | rs606231285(A;A) |
Reference | Rs606231285(G;G) |
Significance | Pathogenic |
Disease | Pontocerebellar hypoplasia |
Variation | info |
Gene | EXOSC8 ALG5 |
CLNDBN | Pontocerebellar hypoplasia, type 1c |
Reversed | 1 |
HGVS | NC_000013.10:g.37574947C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000144942.3, |