rs193302872
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs193302872(C;G) |
Make rs193302872(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 1775110 |
Gene | SERPINF1 |
is a | snp |
is | mentioned by |
dbSNP | rs193302872 |
dbSNP (classic) | rs193302872 |
ClinGen | rs193302872 |
ebi | rs193302872 |
HLI | rs193302872 |
Exac | rs193302872 |
Gnomad | rs193302872 |
Varsome | rs193302872 |
LitVar | rs193302872 |
Map | rs193302872 |
PheGenI | rs193302872 |
Biobank | rs193302872 |
1000 genomes | rs193302872 |
hgdp | rs193302872 |
ensembl | rs193302872 |
geneview | rs193302872 |
scholar | rs193302872 |
rs193302872 | |
pharmgkb | rs193302872 |
gwascentral | rs193302872 |
openSNP | rs193302872 |
23andMe | rs193302872 |
SNPshot | rs193302872 |
SNPdbe | rs193302872 |
MSV3d | rs193302872 |
GWAS Ctlg | rs193302872 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193302872(G;G) |
Alt | rs193302872(G;G) |
Reference | Rs193302872(C;C) |
Significance | Pathogenic |
Disease | Osteogenesis imperfecta not provided |
Variation | info |
Gene | SERPINF1 |
CLNDBN | Osteogenesis imperfecta, type VI not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.1678404C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022716.27, RCV000024545.1, |