rs202237232
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs202237232(C;C) |
Make rs202237232(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 33018485 |
Gene | GLB1, LOC107986073 |
is a | snp |
is | mentioned by |
dbSNP | rs202237232 |
dbSNP (classic) | rs202237232 |
ClinGen | rs202237232 |
ebi | rs202237232 |
HLI | rs202237232 |
Exac | rs202237232 |
Gnomad | rs202237232 |
Varsome | rs202237232 |
LitVar | rs202237232 |
Map | rs202237232 |
PheGenI | rs202237232 |
Biobank | rs202237232 |
1000 genomes | rs202237232 |
hgdp | rs202237232 |
ensembl | rs202237232 |
geneview | rs202237232 |
scholar | rs202237232 |
rs202237232 | |
pharmgkb | rs202237232 |
gwascentral | rs202237232 |
openSNP | rs202237232 |
23andMe | rs202237232 |
SNPshot | rs202237232 |
SNPdbe | rs202237232 |
MSV3d | rs202237232 |
GWAS Ctlg | rs202237232 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202237232(A;A) rs202237232(C;C) rs202237232(G;G) |
Alt | rs202237232(A;A) rs202237232(C;C) rs202237232(G;G) |
Reference | Rs202237232(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided Mucopolysaccharidosis Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis |
Variation | info |
Gene | TMPPE GLB1 |
CLNDBN | not provided Mucopolysaccharidosis, MPS-IV-B Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis |
Reversed | 0 |
HGVS | NC_000003.11:g.33059977T>A |
CLNSRC | |
CLNACC | RCV000078702.3, RCV000174472.1, RCV000174473.1, RCV000174474.1, RCV000174475.1, |