rs397515515
From SNPedia
Merged into | rs439898 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(T;T) | 0 | common genotype |
Make rs397515515(C;T) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 1 |
Position | 155208421 |
Gene | GBA |
is a | snp |
is | mentioned by |
dbSNP | rs397515515 |
dbSNP (classic) | rs397515515 |
ClinGen | rs397515515 |
ebi | rs397515515 |
HLI | rs397515515 |
Exac | rs397515515 |
Gnomad | rs397515515 |
Varsome | rs397515515 |
LitVar | rs397515515 |
Map | rs397515515 |
PheGenI | rs397515515 |
Biobank | rs397515515 |
1000 genomes | rs397515515 |
hgdp | rs397515515 |
ensembl | rs397515515 |
geneview | rs397515515 |
scholar | rs397515515 |
rs397515515 | |
pharmgkb | rs397515515 |
gwascentral | rs397515515 |
openSNP | rs397515515 |
23andMe | rs397515515 |
SNPshot | rs397515515 |
SNPdbe | rs397515515 |
MSV3d | rs397515515 |
GWAS Ctlg | rs397515515 |
Status | Merged into rs439898 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs397515515(T;T) |
Alt | Rs397515515(T;T) |
Reference | Rs397515515(C;C) |
Significance | Pathogenic |
Disease | Gaucher disease not provided Gaucher's disease |
Variation | info |
Gene | GBA |
CLNDBN | Gaucher disease not provided Gaucher's disease, type 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.155208421G>A |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000055774.1, RCV000079345.3, RCV000179355.1, |