rs121909147
From SNPedia
Merged into | rs121909146 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121909147(C;G) |
Make rs121909147(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 2831582 |
Gene | SH3BP2 |
is a | snp |
is | mentioned by |
dbSNP | rs121909147 |
dbSNP (classic) | rs121909147 |
ClinGen | rs121909147 |
ebi | rs121909147 |
HLI | rs121909147 |
Exac | rs121909147 |
Gnomad | rs121909147 |
Varsome | rs121909147 |
LitVar | rs121909147 |
Map | rs121909147 |
PheGenI | rs121909147 |
Biobank | rs121909147 |
1000 genomes | rs121909147 |
hgdp | rs121909147 |
ensembl | rs121909147 |
geneview | rs121909147 |
scholar | rs121909147 |
rs121909147 | |
pharmgkb | rs121909147 |
gwascentral | rs121909147 |
openSNP | rs121909147 |
23andMe | rs121909147 |
SNPshot | rs121909147 |
SNPdbe | rs121909147 |
MSV3d | rs121909147 |
GWAS Ctlg | rs121909147 |
Status | Merged into rs121909146 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909147(G;G) |
Alt | rs121909147(G;G) |
Reference | Rs121909147(C;C) |
Significance | Pathogenic |
Disease | Fibrous dysplasia of jaw |
Variation | info |
Gene | SH3BP2 |
CLNDBN | Fibrous dysplasia of jaw |
Reversed | 0 |
HGVS | NC_000004.11:g.2833309C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | SCV000028189.1, |