rs121908669
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908669(C;C) |
Make rs121908669(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 68357672 |
Gene | LRP5 |
is a | snp |
is | mentioned by |
dbSNP | rs121908669 |
dbSNP (classic) | rs121908669 |
ClinGen | rs121908669 |
ebi | rs121908669 |
HLI | rs121908669 |
Exac | rs121908669 |
Gnomad | rs121908669 |
Varsome | rs121908669 |
LitVar | rs121908669 |
Map | rs121908669 |
PheGenI | rs121908669 |
Biobank | rs121908669 |
1000 genomes | rs121908669 |
hgdp | rs121908669 |
ensembl | rs121908669 |
geneview | rs121908669 |
scholar | rs121908669 |
rs121908669 | |
pharmgkb | rs121908669 |
gwascentral | rs121908669 |
openSNP | rs121908669 |
23andMe | rs121908669 |
SNPshot | rs121908669 |
SNPdbe | rs121908669 |
MSV3d | rs121908669 |
GWAS Ctlg | rs121908669 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908669(C;C) |
Alt | rs121908669(C;C) |
Reference | Rs121908669(G;G) |
Significance | Pathogenic |
Disease | Osteopetrosis autosomal dominant type 1 |
Variation | info |
Gene | LRP5 |
CLNDBN | Osteopetrosis autosomal dominant type 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.68125140G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006659.2, |