rs786205092
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205092(-;-) |
Make rs786205092(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 134661568 |
Gene | BPGM |
is a | snp |
is | mentioned by |
dbSNP | rs786205092 |
dbSNP (classic) | rs786205092 |
ClinGen | rs786205092 |
ebi | rs786205092 |
HLI | rs786205092 |
Exac | rs786205092 |
Gnomad | rs786205092 |
Varsome | rs786205092 |
LitVar | rs786205092 |
Map | rs786205092 |
PheGenI | rs786205092 |
Biobank | rs786205092 |
1000 genomes | rs786205092 |
hgdp | rs786205092 |
ensembl | rs786205092 |
geneview | rs786205092 |
scholar | rs786205092 |
rs786205092 | |
pharmgkb | rs786205092 |
gwascentral | rs786205092 |
openSNP | rs786205092 |
23andMe | rs786205092 |
SNPshot | rs786205092 |
SNPdbe | rs786205092 |
MSV3d | rs786205092 |
GWAS Ctlg | rs786205092 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205092(-;-) |
Alt | rs786205092(-;-) |
Reference | Rs786205092(C;C) |
Significance | Pathogenic |
Disease | Deficiency of bisphosphoglycerate mutase |
Variation | info |
Gene | BPGM |
CLNDBN | Deficiency of bisphosphoglycerate mutase |
Reversed | 0 |
HGVS | NC_000007.13:g.134346320delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012873.5, |