rs863223288
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CG;CG) | 0 | common in clinvar |
Make rs863223288(-;-) |
Make rs863223288(-;CG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 42606792 |
Gene | TNFSF11 |
is a | snp |
is | mentioned by |
dbSNP | rs863223288 |
dbSNP (classic) | rs863223288 |
ClinGen | rs863223288 |
ebi | rs863223288 |
HLI | rs863223288 |
Exac | rs863223288 |
Gnomad | rs863223288 |
Varsome | rs863223288 |
LitVar | rs863223288 |
Map | rs863223288 |
PheGenI | rs863223288 |
Biobank | rs863223288 |
1000 genomes | rs863223288 |
hgdp | rs863223288 |
ensembl | rs863223288 |
geneview | rs863223288 |
scholar | rs863223288 |
rs863223288 | |
pharmgkb | rs863223288 |
gwascentral | rs863223288 |
openSNP | rs863223288 |
23andMe | rs863223288 |
SNPshot | rs863223288 |
SNPdbe | rs863223288 |
MSV3d | rs863223288 |
GWAS Ctlg | rs863223288 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223288(-;-) |
Alt | rs863223288(-;-) |
Reference | Rs863223288(CG;CG) |
Significance | Pathogenic |
Disease | Osteopetrosis autosomal recessive 2 |
Variation | info |
Gene | TNFSF11 |
CLNDBN | Osteopetrosis autosomal recessive 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.43180928_43180929delCG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007390.3, |