rs1135675
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1135675(C;C) |
Make rs1135675(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 155235203 |
Gene | GBA |
is a | snp |
is | mentioned by |
dbSNP | rs1135675 |
dbSNP (classic) | rs1135675 |
ClinGen | rs1135675 |
ebi | rs1135675 |
HLI | rs1135675 |
Exac | rs1135675 |
Gnomad | rs1135675 |
Varsome | rs1135675 |
LitVar | rs1135675 |
Map | rs1135675 |
PheGenI | rs1135675 |
Biobank | rs1135675 |
1000 genomes | rs1135675 |
hgdp | rs1135675 |
ensembl | rs1135675 |
geneview | rs1135675 |
scholar | rs1135675 |
rs1135675 | |
pharmgkb | rs1135675 |
gwascentral | rs1135675 |
openSNP | rs1135675 |
23andMe | rs1135675 |
SNPshot | rs1135675 |
SNPdbe | rs1135675 |
MSV3d | rs1135675 |
GWAS Ctlg | rs1135675 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1135675(C;C) |
Alt | rs1135675(C;C) |
Reference | Rs1135675(G;G) |
Significance | Other |
Disease | Gaucher's disease Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Gaucher disease not specified |
Variation | info |
Gene | GBA |
CLNDBN | Gaucher's disease, type 1 Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Gaucher disease, perinatal lethal not specified |
Reversed | 1 |
HGVS | NC_000001.10:g.155204994C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004533.5, RCV000004534.5, RCV000004535.5, RCV000004536.5, RCV000079342.5, |