rs121908309
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs121908309(C;T) |
Make rs121908309(T;T) |
Reference | GRCh37 37.1/132 |
Chromosome | 1 |
Position | 155236277 |
Gene | GBA |
is a | snp |
is | mentioned by |
dbSNP | rs121908309 |
dbSNP (classic) | rs121908309 |
ClinGen | rs121908309 |
ebi | rs121908309 |
HLI | rs121908309 |
Exac | rs121908309 |
Gnomad | rs121908309 |
Varsome | rs121908309 |
LitVar | rs121908309 |
Map | rs121908309 |
PheGenI | rs121908309 |
Biobank | rs121908309 |
1000 genomes | rs121908309 |
hgdp | rs121908309 |
ensembl | rs121908309 |
geneview | rs121908309 |
scholar | rs121908309 |
rs121908309 | |
pharmgkb | rs121908309 |
gwascentral | rs121908309 |
openSNP | rs121908309 |
23andMe | rs121908309 |
SNPshot | rs121908309 |
SNPdbe | rs121908309 |
MSV3d | rs121908309 |
GWAS Ctlg | rs121908309 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908309(T;T) |
Alt | rs121908309(T;T) |
Reference | Rs121908309(C;C) |
Significance | Pathogenic |
Disease | Gaucher disease not provided Gaucher's disease |
Variation | info |
Gene | GBA |
CLNDBN | Gaucher disease, perinatal lethal not provided Gaucher's disease, type 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.155206068G>A |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000004570.3, RCV000079334.3, RCV000180538.1, |