rs863224048
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs863224048(-;-) |
Make rs863224048(-;AG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 146177587 |
Gene | LARS |
is a | snp |
is | mentioned by |
dbSNP | rs863224048 |
dbSNP (classic) | rs863224048 |
ClinGen | rs863224048 |
ebi | rs863224048 |
HLI | rs863224048 |
Exac | rs863224048 |
Gnomad | rs863224048 |
Varsome | rs863224048 |
LitVar | rs863224048 |
Map | rs863224048 |
PheGenI | rs863224048 |
Biobank | rs863224048 |
1000 genomes | rs863224048 |
hgdp | rs863224048 |
ensembl | rs863224048 |
geneview | rs863224048 |
scholar | rs863224048 |
rs863224048 | |
pharmgkb | rs863224048 |
gwascentral | rs863224048 |
openSNP | rs863224048 |
23andMe | rs863224048 |
SNPshot | rs863224048 |
SNPdbe | rs863224048 |
MSV3d | rs863224048 |
GWAS Ctlg | rs863224048 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224048(-;-) |
Alt | rs863224048(-;-) |
Reference | Rs863224048(AG;AG) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | LARS |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000005.9:g.145557150_145557151delCT |
CLNSRC | |
CLNACC | RCV000198668.1, |