rs121908304
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs121908304(G;T) |
Make rs121908304(T;T) |
Reference | GRCh37 37.1/132 |
Chromosome | 1 |
Position | 155236416 |
Gene | GBA |
is a | snp |
is | mentioned by |
dbSNP | rs121908304 |
dbSNP (classic) | rs121908304 |
ClinGen | rs121908304 |
ebi | rs121908304 |
HLI | rs121908304 |
Exac | rs121908304 |
Gnomad | rs121908304 |
Varsome | rs121908304 |
LitVar | rs121908304 |
Map | rs121908304 |
PheGenI | rs121908304 |
Biobank | rs121908304 |
1000 genomes | rs121908304 |
hgdp | rs121908304 |
ensembl | rs121908304 |
geneview | rs121908304 |
scholar | rs121908304 |
rs121908304 | |
pharmgkb | rs121908304 |
gwascentral | rs121908304 |
openSNP | rs121908304 |
23andMe | rs121908304 |
SNPshot | rs121908304 |
SNPdbe | rs121908304 |
MSV3d | rs121908304 |
GWAS Ctlg | rs121908304 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908304(T;T) |
Alt | rs121908304(T;T) |
Reference | Rs121908304(G;G) |
Significance | Pathogenic |
Disease | Gaucher's disease |
Variation | info |
Gene | GBA |
CLNDBN | Gaucher's disease, type 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.155206207C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004561.5, |