rs1064794288
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Chromosome | 17 |
Position | 80108409 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs1064794288 |
dbSNP (classic) | rs1064794288 |
ClinGen | rs1064794288 |
ebi | rs1064794288 |
HLI | rs1064794288 |
Exac | rs1064794288 |
Gnomad | rs1064794288 |
Varsome | rs1064794288 |
LitVar | rs1064794288 |
Map | rs1064794288 |
PheGenI | rs1064794288 |
Biobank | rs1064794288 |
1000 genomes | rs1064794288 |
hgdp | rs1064794288 |
ensembl | rs1064794288 |
geneview | rs1064794288 |
scholar | rs1064794288 |
rs1064794288 | |
pharmgkb | rs1064794288 |
gwascentral | rs1064794288 |
openSNP | rs1064794288 |
23andMe | rs1064794288 |
SNPshot | rs1064794288 |
SNPdbe | rs1064794288 |
MSV3d | rs1064794288 |
GWAS Ctlg | rs1064794288 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064794288(T;T) |
Alt | rs1064794288(T;T) |
Reference | Rs1064794288(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | GAA |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.78082208G>T |
CLNSRC | |
CLNACC | RCV000483867.1, |