rs121909146
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121909146(C;T) |
Make rs121909146(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 2831582 |
Gene | SH3BP2 |
is a | snp |
is | mentioned by |
dbSNP | rs121909146 |
dbSNP (classic) | rs121909146 |
ClinGen | rs121909146 |
ebi | rs121909146 |
HLI | rs121909146 |
Exac | rs121909146 |
Gnomad | rs121909146 |
Varsome | rs121909146 |
LitVar | rs121909146 |
Map | rs121909146 |
PheGenI | rs121909146 |
Biobank | rs121909146 |
1000 genomes | rs121909146 |
hgdp | rs121909146 |
ensembl | rs121909146 |
geneview | rs121909146 |
scholar | rs121909146 |
rs121909146 | |
pharmgkb | rs121909146 |
gwascentral | rs121909146 |
openSNP | rs121909146 |
23andMe | rs121909146 |
SNPshot | rs121909146 |
SNPdbe | rs121909146 |
MSV3d | rs121909146 |
GWAS Ctlg | rs121909146 |
Merged from | Rs121909147, Rs121909148 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909146(A;A) rs121909146(G;G) rs121909146(T;T) |
Alt | rs121909146(A;A) rs121909146(G;G) rs121909146(T;T) |
Reference | Rs121909146(C;C) |
Significance | Pathogenic |
Disease | Fibrous dysplasia of jaw not provided |
Variation | info |
Gene | SH3BP2 |
CLNDBN | Fibrous dysplasia of jaw not provided |
Reversed | 0 |
HGVS | NC_000004.11:g.2833309C>A; NC_000004.11:g.2833309C>G; NC_000004.11:g.2833309C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007985.2, RCV000007984.3, RCV000486508.1, RCV000007983.2, |