rs752921215
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs752921215(C;C) |
Make rs752921215(C;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 80117015 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs752921215 |
dbSNP (classic) | rs752921215 |
ClinGen | rs752921215 |
ebi | rs752921215 |
HLI | rs752921215 |
Exac | rs752921215 |
Gnomad | rs752921215 |
Varsome | rs752921215 |
LitVar | rs752921215 |
Map | rs752921215 |
PheGenI | rs752921215 |
Biobank | rs752921215 |
1000 genomes | rs752921215 |
hgdp | rs752921215 |
ensembl | rs752921215 |
geneview | rs752921215 |
scholar | rs752921215 |
rs752921215 | |
pharmgkb | rs752921215 |
gwascentral | rs752921215 |
openSNP | rs752921215 |
23andMe | rs752921215 |
SNPshot | rs752921215 |
SNPdbe | rs752921215 |
MSV3d | rs752921215 |
GWAS Ctlg | rs752921215 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752921215(A;A) rs752921215(C;C) rs752921215(T;T) |
Alt | rs752921215(A;A) rs752921215(C;C) rs752921215(T;T) |
Reference | Rs752921215(G;G) |
Significance | Pathogenic |
Disease | not provided not specified |
Variation | info |
Gene | GAA |
CLNDBN | not provided not specified |
Reversed | 0 |
HGVS | NC_000017.10:g.78090814G>A; NC_000017.10:g.78090814G>C; NC_000017.10:g.78090814G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000302789.1, RCV000168666.2, RCV000313359.1, |