rs143523371
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a glycogen storage disease II mutation |
(G;G) | 0 | common in clinvar |
Make rs143523371(A;A) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 80105132 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs143523371 |
dbSNP (classic) | rs143523371 |
ClinGen | rs143523371 |
ebi | rs143523371 |
HLI | rs143523371 |
Exac | rs143523371 |
Gnomad | rs143523371 |
Varsome | rs143523371 |
LitVar | rs143523371 |
Map | rs143523371 |
PheGenI | rs143523371 |
Biobank | rs143523371 |
1000 genomes | rs143523371 |
hgdp | rs143523371 |
ensembl | rs143523371 |
geneview | rs143523371 |
scholar | rs143523371 |
rs143523371 | |
pharmgkb | rs143523371 |
gwascentral | rs143523371 |
openSNP | rs143523371 |
23andMe | rs143523371 |
SNPshot | rs143523371 |
SNPdbe | rs143523371 |
MSV3d | rs143523371 |
GWAS Ctlg | rs143523371 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs143523371(A;A) rs143523371(C;C) rs143523371(T;T) |
Alt | rs143523371(A;A) rs143523371(C;C) rs143523371(T;T) |
Reference | Rs143523371(G;G) |
Significance | Pathogenic |
Disease | Glycogen storage disease |
Variation | info |
Gene | GAA |
CLNDBN | Glycogen storage disease, type II |
Reversed | 0 |
HGVS | NC_000017.10:g.78078931G>A; NC_000017.10:g.78078931G>C; NC_000017.10:g.78078931G>T |
CLNSRC | |
CLNACC | RCV000385549.2, RCV000361874.1, RCV000410156.1, |