rs786200979
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs786200979(AT;GG) |
Make rs786200979(GG;GG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 155238214 |
Gene | GBA |
is a | snp |
is | mentioned by |
dbSNP | rs786200979 |
dbSNP (classic) | rs786200979 |
ClinGen | rs786200979 |
ebi | rs786200979 |
HLI | rs786200979 |
Exac | rs786200979 |
Gnomad | rs786200979 |
Varsome | rs786200979 |
LitVar | rs786200979 |
Map | rs786200979 |
PheGenI | rs786200979 |
Biobank | rs786200979 |
1000 genomes | rs786200979 |
hgdp | rs786200979 |
ensembl | rs786200979 |
geneview | rs786200979 |
scholar | rs786200979 |
rs786200979 | |
pharmgkb | rs786200979 |
gwascentral | rs786200979 |
openSNP | rs786200979 |
23andMe | rs786200979 |
SNPshot | rs786200979 |
SNPdbe | rs786200979 |
MSV3d | rs786200979 |
GWAS Ctlg | rs786200979 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200979(GG;GG) |
Alt | rs786200979(GG;GG) |
Reference | Rs786200979(AT;AT) |
Significance | Probable-Pathogenic |
Disease | not provided Gaucher's disease |
Variation | info |
Gene | GBA |
CLNDBN | not provided Gaucher's disease, type 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.155208005_155208006delATinsCC |
CLNSRC | |
CLNACC | RCV000153310.2, RCV000179796.1, |