rs151332020
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs151332020(A;A) |
Make rs151332020(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 75523764 |
Gene | LLGL2, LOC107985023, TSEN54 |
is a | snp |
is | mentioned by |
dbSNP | rs151332020 |
dbSNP (classic) | rs151332020 |
ClinGen | rs151332020 |
ebi | rs151332020 |
HLI | rs151332020 |
Exac | rs151332020 |
Gnomad | rs151332020 |
Varsome | rs151332020 |
LitVar | rs151332020 |
Map | rs151332020 |
PheGenI | rs151332020 |
Biobank | rs151332020 |
1000 genomes | rs151332020 |
hgdp | rs151332020 |
ensembl | rs151332020 |
geneview | rs151332020 |
scholar | rs151332020 |
rs151332020 | |
pharmgkb | rs151332020 |
gwascentral | rs151332020 |
openSNP | rs151332020 |
23andMe | rs151332020 |
SNPshot | rs151332020 |
SNPdbe | rs151332020 |
MSV3d | rs151332020 |
GWAS Ctlg | rs151332020 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151332020(A;A) |
Alt | rs151332020(A;A) |
Reference | Rs151332020(G;G) |
Significance | Probable-Pathogenic |
Disease | Pontoneocerebellar hypoplasia not provided |
Variation | info |
Gene | TSEN54 LLGL2 |
CLNDBN | Pontoneocerebellar hypoplasia not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.73519845G>A |
CLNSRC | |
CLNACC | RCV000383316.1, RCV000433179.1, |