rs77369218
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 3 | Carrier of a Gaucher disease mutation |
Make rs77369218(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 155235726 |
Gene | GBA |
is a | snp |
is | mentioned by |
dbSNP | rs77369218 |
dbSNP (classic) | rs77369218 |
ClinGen | rs77369218 |
ebi | rs77369218 |
HLI | rs77369218 |
Exac | rs77369218 |
Gnomad | rs77369218 |
Varsome | rs77369218 |
LitVar | rs77369218 |
Map | rs77369218 |
PheGenI | rs77369218 |
Biobank | rs77369218 |
1000 genomes | rs77369218 |
hgdp | rs77369218 |
ensembl | rs77369218 |
geneview | rs77369218 |
scholar | rs77369218 |
rs77369218 | |
pharmgkb | rs77369218 |
gwascentral | rs77369218 |
openSNP | rs77369218 |
23andMe | rs77369218 |
SNPshot | rs77369218 |
SNPdbe | rs77369218 |
MSV3d | rs77369218 |
GWAS Ctlg | rs77369218 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs77369218(T;T) |
Alt | rs77369218(T;T) |
Reference | Rs77369218(A;A) |
Significance | Pathogenic |
Disease | Subacute neuronopathic Gaucher's disease Gaucher disease Gaucher's disease |
Variation | info |
Gene | GBA |
CLNDBN | Subacute neuronopathic Gaucher's disease Gaucher disease Gaucher's disease, type 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.155205517T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004527.3, RCV000020149.1, RCV000411499.1, |
[PMID 2508065] Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.
[PMID 7475546] Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.
[PMID 7627184] Gaucher disease in Spanish patients: analysis of eight mutations.
[PMID 7655857] Five new Gaucher disease mutations.
[PMID 11148530] A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules.
[PMID 18586596] Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.