rs786205697
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205697(C;T) |
Make rs786205697(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 214657139 |
Gene | CENPF |
is a | snp |
is | mentioned by |
dbSNP | rs786205697 |
dbSNP (classic) | rs786205697 |
ClinGen | rs786205697 |
ebi | rs786205697 |
HLI | rs786205697 |
Exac | rs786205697 |
Gnomad | rs786205697 |
Varsome | rs786205697 |
LitVar | rs786205697 |
Map | rs786205697 |
PheGenI | rs786205697 |
Biobank | rs786205697 |
1000 genomes | rs786205697 |
hgdp | rs786205697 |
ensembl | rs786205697 |
geneview | rs786205697 |
scholar | rs786205697 |
rs786205697 | |
pharmgkb | rs786205697 |
gwascentral | rs786205697 |
openSNP | rs786205697 |
23andMe | rs786205697 |
SNPshot | rs786205697 |
SNPdbe | rs786205697 |
MSV3d | rs786205697 |
GWAS Ctlg | rs786205697 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205697(T;T) |
Alt | rs786205697(T;T) |
Reference | Rs786205697(C;C) |
Significance | Pathogenic |
Disease | Stromme syndrome |
Variation | info |
Gene | CENPF |
CLNDBN | Stromme syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.214830482C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000170525.3, |