rs869312933
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GATTCCAGGTGG;GATTCCAGGTGG) | 0 | common in clinvar |
(GGTGGATTCCA;GGTGGATTCCA) | 0 | common in clinvar |
Make rs869312933(-;-) |
Make rs869312933(-;ATTCCAGGTGG) |
Make rs869312933(ATTCCAGGTGG;ATTCCAGGTGG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 228351314 |
Gene | OBSCN |
is a | snp |
is | mentioned by |
dbSNP | rs869312933 |
dbSNP (classic) | rs869312933 |
ClinGen | rs869312933 |
ebi | rs869312933 |
HLI | rs869312933 |
Exac | rs869312933 |
Gnomad | rs869312933 |
Varsome | rs869312933 |
LitVar | rs869312933 |
Map | rs869312933 |
PheGenI | rs869312933 |
Biobank | rs869312933 |
1000 genomes | rs869312933 |
hgdp | rs869312933 |
ensembl | rs869312933 |
geneview | rs869312933 |
scholar | rs869312933 |
rs869312933 | |
pharmgkb | rs869312933 |
gwascentral | rs869312933 |
openSNP | rs869312933 |
23andMe | rs869312933 |
SNPshot | rs869312933 |
SNPdbe | rs869312933 |
MSV3d | rs869312933 |
GWAS Ctlg | rs869312933 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312933(-;-) |
Alt | rs869312933(-;-) |
Reference | Rs869312933(GGTGGATTCCA;GGTGGATTCCA) |
Significance | Pathogenic |
Disease | Inborn genetic diseases |
Variation | info |
Gene | OBSCN |
CLNDBN | Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000001.10:g.228539015_228539025delATTCCAGGTGG |
CLNSRC | |
CLNACC | RCV000210654.1, |