rs374550999
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs374550999(A;A) |
Make rs374550999(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 37784807 |
Gene | EXOSC3 |
is a | snp |
is | mentioned by |
dbSNP | rs374550999 |
dbSNP (classic) | rs374550999 |
ClinGen | rs374550999 |
ebi | rs374550999 |
HLI | rs374550999 |
Exac | rs374550999 |
Gnomad | rs374550999 |
Varsome | rs374550999 |
LitVar | rs374550999 |
Map | rs374550999 |
PheGenI | rs374550999 |
Biobank | rs374550999 |
1000 genomes | rs374550999 |
hgdp | rs374550999 |
ensembl | rs374550999 |
geneview | rs374550999 |
scholar | rs374550999 |
rs374550999 | |
pharmgkb | rs374550999 |
gwascentral | rs374550999 |
openSNP | rs374550999 |
23andMe | rs374550999 |
SNPshot | rs374550999 |
SNPdbe | rs374550999 |
MSV3d | rs374550999 |
GWAS Ctlg | rs374550999 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs374550999(A;A) rs374550999(G;G) |
Alt | rs374550999(A;A) rs374550999(G;G) |
Reference | Rs374550999(C;C) |
Significance | Other |
Disease | Pontocerebellar hypoplasia not provided |
Variation | info |
Gene | EXOSC3 |
CLNDBN | Pontocerebellar hypoplasia, type 1b not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.37784804C>A; NC_000009.11:g.37784804C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000117005.7, RCV000490031.1, |