rs869320756
From SNPedia
Merged into | rs757575602 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TGAAAATGAAAAAACCGAGGGTACAAACC;TGAAAATGAAAAAACCGAGGGTACAAACC) | 0 | common in clinvar |
Make rs869320756(-;-) |
Make rs869320756(-;TGAAAAAACCGAGGGTACAAACCTGAAAA) |
Make rs869320756(TGAAAAAACCGAGGGTACAAACCTGAAAA;TGAAAAAACCGAGGGTACAAACCTGAAAA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 214614840 |
Gene | CENPF |
is a | snp |
is | mentioned by |
dbSNP | rs869320756 |
dbSNP (classic) | rs869320756 |
ClinGen | rs869320756 |
ebi | rs869320756 |
HLI | rs869320756 |
Exac | rs869320756 |
Gnomad | rs869320756 |
Varsome | rs869320756 |
LitVar | rs869320756 |
Map | rs869320756 |
PheGenI | rs869320756 |
Biobank | rs869320756 |
1000 genomes | rs869320756 |
hgdp | rs869320756 |
ensembl | rs869320756 |
geneview | rs869320756 |
scholar | rs869320756 |
rs869320756 | |
pharmgkb | rs869320756 |
gwascentral | rs869320756 |
openSNP | rs869320756 |
23andMe | rs869320756 |
SNPshot | rs869320756 |
SNPdbe | rs869320756 |
MSV3d | rs869320756 |
GWAS Ctlg | rs869320756 |
Status | Merged into rs757575602 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs869320756(TGAAAATGAAAAAACCGAGGGTACAAACC;TGAAAATGAAAAAACCGAGGGTACAAACC) |
Significance | Pathogenic |
Disease | Stromme syndrome |
Variation | info |
Gene | CENPF |
CLNDBN | Stromme syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.214788183_214788211del29 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210068.1, |