rs148092995
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs148092995(C;T) |
Make rs148092995(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 22 |
Position | 50626154 |
Gene | ARSA |
is a | snp |
is | mentioned by |
dbSNP | rs148092995 |
dbSNP (classic) | rs148092995 |
ClinGen | rs148092995 |
ebi | rs148092995 |
HLI | rs148092995 |
Exac | rs148092995 |
Gnomad | rs148092995 |
Varsome | rs148092995 |
LitVar | rs148092995 |
Map | rs148092995 |
PheGenI | rs148092995 |
Biobank | rs148092995 |
1000 genomes | rs148092995 |
hgdp | rs148092995 |
ensembl | rs148092995 |
geneview | rs148092995 |
scholar | rs148092995 |
rs148092995 | |
pharmgkb | rs148092995 |
gwascentral | rs148092995 |
openSNP | rs148092995 |
23andMe | rs148092995 |
SNPshot | rs148092995 |
SNPdbe | rs148092995 |
MSV3d | rs148092995 |
GWAS Ctlg | rs148092995 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148092995(T;T) |
Alt | rs148092995(T;T) |
Reference | Rs148092995(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | ARSA |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000022.10:g.51064582C>T |
CLNSRC | |
CLNACC | RCV000414752.1, |