rs148842275
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs148842275(C;T) |
Make rs148842275(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 80110767 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs148842275 |
dbSNP (classic) | rs148842275 |
ClinGen | rs148842275 |
ebi | rs148842275 |
HLI | rs148842275 |
Exac | rs148842275 |
Gnomad | rs148842275 |
Varsome | rs148842275 |
LitVar | rs148842275 |
Map | rs148842275 |
PheGenI | rs148842275 |
Biobank | rs148842275 |
1000 genomes | rs148842275 |
hgdp | rs148842275 |
ensembl | rs148842275 |
geneview | rs148842275 |
scholar | rs148842275 |
rs148842275 | |
pharmgkb | rs148842275 |
gwascentral | rs148842275 |
openSNP | rs148842275 |
23andMe | rs148842275 |
SNPshot | rs148842275 |
SNPdbe | rs148842275 |
MSV3d | rs148842275 |
GWAS Ctlg | rs148842275 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148842275(T;T) |
Alt | rs148842275(T;T) |
Reference | Rs148842275(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | GAA |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.78084566C>T |
CLNSRC | |
CLNACC | RCV000443985.1, |