rs28937587
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28937587(C;C) |
Make rs28937587(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 58109627 |
Gene | FLNB |
is a | snp |
is | mentioned by |
dbSNP | rs28937587 |
dbSNP (classic) | rs28937587 |
ClinGen | rs28937587 |
ebi | rs28937587 |
HLI | rs28937587 |
Exac | rs28937587 |
Gnomad | rs28937587 |
Varsome | rs28937587 |
LitVar | rs28937587 |
Map | rs28937587 |
PheGenI | rs28937587 |
Biobank | rs28937587 |
1000 genomes | rs28937587 |
hgdp | rs28937587 |
ensembl | rs28937587 |
geneview | rs28937587 |
scholar | rs28937587 |
rs28937587 | |
pharmgkb | rs28937587 |
gwascentral | rs28937587 |
openSNP | rs28937587 |
23andMe | rs28937587 |
SNPshot | rs28937587 |
SNPdbe | rs28937587 |
MSV3d | rs28937587 |
GWAS Ctlg | rs28937587 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28937587(C;C) |
Alt | rs28937587(C;C) |
Reference | Rs28937587(G;G) |
Significance | Pathogenic |
Disease | Atelosteogenesis type 3 |
Variation | info |
Gene | FLNB |
CLNDBN | Atelosteogenesis type 3 |
Reversed | 0 |
HGVS | NC_000003.11:g.58095354G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006773.3, |