rs1057518106
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057518106(A;A) |
Make rs1057518106(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 80112948 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs1057518106 |
dbSNP (classic) | rs1057518106 |
ClinGen | rs1057518106 |
ebi | rs1057518106 |
HLI | rs1057518106 |
Exac | rs1057518106 |
Gnomad | rs1057518106 |
Varsome | rs1057518106 |
LitVar | rs1057518106 |
Map | rs1057518106 |
PheGenI | rs1057518106 |
Biobank | rs1057518106 |
1000 genomes | rs1057518106 |
hgdp | rs1057518106 |
ensembl | rs1057518106 |
geneview | rs1057518106 |
scholar | rs1057518106 |
rs1057518106 | |
pharmgkb | rs1057518106 |
gwascentral | rs1057518106 |
openSNP | rs1057518106 |
23andMe | rs1057518106 |
SNPshot | rs1057518106 |
SNPdbe | rs1057518106 |
MSV3d | rs1057518106 |
GWAS Ctlg | rs1057518106 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518106(A;A) |
Alt | rs1057518106(A;A) |
Reference | Rs1057518106(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | GAA |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.78086747C>A |
CLNSRC | |
CLNACC | RCV000414717.1, |