rs398122518
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
Make rs398122518(-;-) |
Make rs398122518(-;GT) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 1769885 |
Gene | SERPINF1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122518 |
dbSNP (classic) | rs398122518 |
ClinGen | rs398122518 |
ebi | rs398122518 |
HLI | rs398122518 |
Exac | rs398122518 |
Gnomad | rs398122518 |
Varsome | rs398122518 |
LitVar | rs398122518 |
Map | rs398122518 |
PheGenI | rs398122518 |
Biobank | rs398122518 |
1000 genomes | rs398122518 |
hgdp | rs398122518 |
ensembl | rs398122518 |
geneview | rs398122518 |
scholar | rs398122518 |
rs398122518 | |
pharmgkb | rs398122518 |
gwascentral | rs398122518 |
openSNP | rs398122518 |
23andMe | rs398122518 |
SNPshot | rs398122518 |
SNPdbe | rs398122518 |
MSV3d | rs398122518 |
GWAS Ctlg | rs398122518 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122518(-;-) |
Alt | rs398122518(-;-) |
Reference | Rs398122518(GT;GT) |
Significance | Pathogenic |
Disease | Osteogenesis imperfecta |
Variation | info |
Gene | SERPINF1 |
CLNDBN | Osteogenesis imperfecta, type VI |
Reversed | 0 |
HGVS | NC_000017.10:g.1673179_1673180delGT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000034818.26, |