rs398123037
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs398123037(-;-) |
Make rs398123037(-;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 45485750 |
Gene | LARS2, LARS2-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs398123037 |
dbSNP (classic) | rs398123037 |
ClinGen | rs398123037 |
ebi | rs398123037 |
HLI | rs398123037 |
Exac | rs398123037 |
Gnomad | rs398123037 |
Varsome | rs398123037 |
LitVar | rs398123037 |
Map | rs398123037 |
PheGenI | rs398123037 |
Biobank | rs398123037 |
1000 genomes | rs398123037 |
hgdp | rs398123037 |
ensembl | rs398123037 |
geneview | rs398123037 |
scholar | rs398123037 |
rs398123037 | |
pharmgkb | rs398123037 |
gwascentral | rs398123037 |
openSNP | rs398123037 |
23andMe | rs398123037 |
SNPshot | rs398123037 |
SNPdbe | rs398123037 |
MSV3d | rs398123037 |
GWAS Ctlg | rs398123037 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123037(-;-) |
Alt | rs398123037(-;-) |
Reference | Rs398123037(T;T) |
Significance | Pathogenic |
Disease | Perrault syndrome 4 |
Variation | info |
Gene | LARS2 LARS2-AS1 |
CLNDBN | Perrault syndrome 4 |
Reversed | 0 |
HGVS | NC_000003.11:g.45527242delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000049287.4, |