rs193186112
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs193186112(C;T) |
Make rs193186112(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 99861676 |
Gene | AGL |
is a | snp |
is | mentioned by |
dbSNP | rs193186112 |
dbSNP (classic) | rs193186112 |
ClinGen | rs193186112 |
ebi | rs193186112 |
HLI | rs193186112 |
Exac | rs193186112 |
Gnomad | rs193186112 |
Varsome | rs193186112 |
LitVar | rs193186112 |
Map | rs193186112 |
PheGenI | rs193186112 |
Biobank | rs193186112 |
1000 genomes | rs193186112 |
hgdp | rs193186112 |
ensembl | rs193186112 |
geneview | rs193186112 |
scholar | rs193186112 |
rs193186112 | |
pharmgkb | rs193186112 |
gwascentral | rs193186112 |
openSNP | rs193186112 |
23andMe | rs193186112 |
SNPshot | rs193186112 |
SNPdbe | rs193186112 |
MSV3d | rs193186112 |
GWAS Ctlg | rs193186112 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193186112(T;T) |
Alt | rs193186112(T;T) |
Reference | Rs193186112(C;C) |
Significance | Pathogenic |
Disease | Glycogen storage disease type III |
Variation | info |
Gene | AGL |
CLNDBN | Glycogen storage disease type III |
Reversed | 0 |
HGVS | NC_000001.10:g.100327232C>T |
CLNSRC | |
CLNACC | RCV000177086.1, |