rs28938171
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28938171(A;A) |
Make rs28938171(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 2831588 |
Gene | SH3BP2 |
is a | snp |
is | mentioned by |
dbSNP | rs28938171 |
dbSNP (classic) | rs28938171 |
ClinGen | rs28938171 |
ebi | rs28938171 |
HLI | rs28938171 |
Exac | rs28938171 |
Gnomad | rs28938171 |
Varsome | rs28938171 |
LitVar | rs28938171 |
Map | rs28938171 |
PheGenI | rs28938171 |
Biobank | rs28938171 |
1000 genomes | rs28938171 |
hgdp | rs28938171 |
ensembl | rs28938171 |
geneview | rs28938171 |
scholar | rs28938171 |
rs28938171 | |
pharmgkb | rs28938171 |
gwascentral | rs28938171 |
openSNP | rs28938171 |
23andMe | rs28938171 |
SNPshot | rs28938171 |
SNPdbe | rs28938171 |
MSV3d | rs28938171 |
GWAS Ctlg | rs28938171 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28938171(A;A) |
Alt | rs28938171(A;A) |
Reference | Rs28938171(G;G) |
Significance | Pathogenic |
Disease | Fibrous dysplasia of jaw |
Variation | info |
Gene | SH3BP2 |
CLNDBN | Fibrous dysplasia of jaw |
Reversed | 0 |
HGVS | NC_000004.11:g.2833315G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007989.2, |