rs200976140
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200976140(G;T) |
Make rs200976140(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 214641072 |
Gene | CENPF |
is a | snp |
is | mentioned by |
dbSNP | rs200976140 |
dbSNP (classic) | rs200976140 |
ClinGen | rs200976140 |
ebi | rs200976140 |
HLI | rs200976140 |
Exac | rs200976140 |
Gnomad | rs200976140 |
Varsome | rs200976140 |
LitVar | rs200976140 |
Map | rs200976140 |
PheGenI | rs200976140 |
Biobank | rs200976140 |
1000 genomes | rs200976140 |
hgdp | rs200976140 |
ensembl | rs200976140 |
geneview | rs200976140 |
scholar | rs200976140 |
rs200976140 | |
pharmgkb | rs200976140 |
gwascentral | rs200976140 |
openSNP | rs200976140 |
23andMe | rs200976140 |
SNPshot | rs200976140 |
SNPdbe | rs200976140 |
MSV3d | rs200976140 |
GWAS Ctlg | rs200976140 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200976140(T;T) |
Alt | rs200976140(T;T) |
Reference | Rs200976140(G;G) |
Significance | Pathogenic |
Disease | Stromme syndrome |
Variation | info |
Gene | CENPF |
CLNDBN | Stromme syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.214814415G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210064.2, |