rs372277612
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs372277612(C;G) |
Make rs372277612(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 46991644 |
Gene | NBEAL2 |
is a | snp |
is | mentioned by |
dbSNP | rs372277612 |
dbSNP (classic) | rs372277612 |
ClinGen | rs372277612 |
ebi | rs372277612 |
HLI | rs372277612 |
Exac | rs372277612 |
Gnomad | rs372277612 |
Varsome | rs372277612 |
LitVar | rs372277612 |
Map | rs372277612 |
PheGenI | rs372277612 |
Biobank | rs372277612 |
1000 genomes | rs372277612 |
hgdp | rs372277612 |
ensembl | rs372277612 |
geneview | rs372277612 |
scholar | rs372277612 |
rs372277612 | |
pharmgkb | rs372277612 |
gwascentral | rs372277612 |
openSNP | rs372277612 |
23andMe | rs372277612 |
SNPshot | rs372277612 |
SNPdbe | rs372277612 |
MSV3d | rs372277612 |
GWAS Ctlg | rs372277612 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372277612(G;G) |
Alt | rs372277612(G;G) |
Reference | Rs372277612(C;C) |
Significance | Pathogenic |
Disease | Gray platelet syndrome |
Variation | info |
Gene | NBEAL2 |
CLNDBN | Gray platelet syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.47033134C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024113.4, |