rs199476382
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199476382(A;A) |
Make rs199476382(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 22 |
Position | 50626195 |
Gene | ARSA |
is a | snp |
is | mentioned by |
dbSNP | rs199476382 |
dbSNP (classic) | rs199476382 |
ClinGen | rs199476382 |
ebi | rs199476382 |
HLI | rs199476382 |
Exac | rs199476382 |
Gnomad | rs199476382 |
Varsome | rs199476382 |
LitVar | rs199476382 |
Map | rs199476382 |
PheGenI | rs199476382 |
Biobank | rs199476382 |
1000 genomes | rs199476382 |
hgdp | rs199476382 |
ensembl | rs199476382 |
geneview | rs199476382 |
scholar | rs199476382 |
rs199476382 | |
pharmgkb | rs199476382 |
gwascentral | rs199476382 |
openSNP | rs199476382 |
23andMe | rs199476382 |
SNPshot | rs199476382 |
SNPdbe | rs199476382 |
MSV3d | rs199476382 |
GWAS Ctlg | rs199476382 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199476382(A;A) |
Alt | rs199476382(A;A) |
Reference | Rs199476382(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | ARSA |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000022.10:g.51064623C>T |
CLNSRC | UniProtKB (variants) |
CLNACC | RCV000058997.2, |