rs386834235
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 3 | Carrier of a glycogen storage disease II mutation |
(T;T) | 0 | common in clinvar |
Make rs386834235(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 80105111 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs386834235 |
dbSNP (classic) | rs386834235 |
ClinGen | rs386834235 |
ebi | rs386834235 |
HLI | rs386834235 |
Exac | rs386834235 |
Gnomad | rs386834235 |
Varsome | rs386834235 |
LitVar | rs386834235 |
Map | rs386834235 |
PheGenI | rs386834235 |
Biobank | rs386834235 |
1000 genomes | rs386834235 |
hgdp | rs386834235 |
ensembl | rs386834235 |
geneview | rs386834235 |
scholar | rs386834235 |
rs386834235 | |
pharmgkb | rs386834235 |
gwascentral | rs386834235 |
openSNP | rs386834235 |
23andMe | rs386834235 |
SNPshot | rs386834235 |
SNPdbe | rs386834235 |
MSV3d | rs386834235 |
GWAS Ctlg | rs386834235 |
Max Magnitude | 3 |
aka c.525delT (p.Glu176Argfs)
ClinVar | |
---|---|
Risk | rs386834235(-;-) |
Alt | rs386834235(-;-) |
Reference | Rs386834235(T;T) |
Significance | Pathogenic |
Disease | Glycogen storage disease not provided |
Variation | info |
Gene | GAA |
CLNDBN | Glycogen storage disease, type II not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.78078910delT |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000004248.6, RCV000078181.3, |