rs376767238
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs376767238(A;C) |
Make rs376767238(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 214620653 |
Gene | CENPF |
is a | snp |
is | mentioned by |
dbSNP | rs376767238 |
dbSNP (classic) | rs376767238 |
ClinGen | rs376767238 |
ebi | rs376767238 |
HLI | rs376767238 |
Exac | rs376767238 |
Gnomad | rs376767238 |
Varsome | rs376767238 |
LitVar | rs376767238 |
Map | rs376767238 |
PheGenI | rs376767238 |
Biobank | rs376767238 |
1000 genomes | rs376767238 |
hgdp | rs376767238 |
ensembl | rs376767238 |
geneview | rs376767238 |
scholar | rs376767238 |
rs376767238 | |
pharmgkb | rs376767238 |
gwascentral | rs376767238 |
openSNP | rs376767238 |
23andMe | rs376767238 |
SNPshot | rs376767238 |
SNPdbe | rs376767238 |
MSV3d | rs376767238 |
GWAS Ctlg | rs376767238 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs376767238(C;C) |
Alt | rs376767238(C;C) |
Reference | Rs376767238(A;A) |
Significance | Pathogenic |
Disease | Stromme syndrome |
Variation | info |
Gene | CENPF |
CLNDBN | Stromme syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.214793996A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000170524.4, |