rs869312908
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TCACCTTCCCGCTGGACTA;TCACCTTCCCGCTGGACTA) | 0 | common in clinvar |
(TCCCGCTGGACTATCACCTT;TCCCGCTGGACTATCACCTT) | 0 | common in clinvar |
Make rs869312908(-;-) |
Make rs869312908(-;CCCGCTGGACTATCACCTT) |
Make rs869312908(CCCGCTGGACTATCACCTT;CCCGCTGGACTATCACCTT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 1777341 |
Gene | SERPINF1 |
is a | snp |
is | mentioned by |
dbSNP | rs869312908 |
dbSNP (classic) | rs869312908 |
ClinGen | rs869312908 |
ebi | rs869312908 |
HLI | rs869312908 |
Exac | rs869312908 |
Gnomad | rs869312908 |
Varsome | rs869312908 |
LitVar | rs869312908 |
Map | rs869312908 |
PheGenI | rs869312908 |
Biobank | rs869312908 |
1000 genomes | rs869312908 |
hgdp | rs869312908 |
ensembl | rs869312908 |
geneview | rs869312908 |
scholar | rs869312908 |
rs869312908 | |
pharmgkb | rs869312908 |
gwascentral | rs869312908 |
openSNP | rs869312908 |
23andMe | rs869312908 |
SNPshot | rs869312908 |
SNPdbe | rs869312908 |
MSV3d | rs869312908 |
GWAS Ctlg | rs869312908 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312908(-;-) |
Alt | rs869312908(-;-) |
Reference | Rs869312908(TCACCTTCCCGCTGGACTA;TCACCTTCCCGCTGGACTA) |
Significance | Pathogenic |
Disease | Osteogenesis imperfecta |
Variation | info |
Gene | SERPINF1 |
CLNDBN | Osteogenesis imperfecta, type VI |
Reversed | 0 |
HGVS | NC_000017.10:g.1680635_1680653del19 |
CLNSRC | |
CLNACC | RCV000210473.1, |