rs120074154
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs120074154(C;T) |
Make rs120074154(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 99854202 |
Gene | VPS13B |
is a | snp |
is | mentioned by |
dbSNP | rs120074154 |
dbSNP (classic) | rs120074154 |
ClinGen | rs120074154 |
ebi | rs120074154 |
HLI | rs120074154 |
Exac | rs120074154 |
Gnomad | rs120074154 |
Varsome | rs120074154 |
LitVar | rs120074154 |
Map | rs120074154 |
PheGenI | rs120074154 |
Biobank | rs120074154 |
1000 genomes | rs120074154 |
hgdp | rs120074154 |
ensembl | rs120074154 |
geneview | rs120074154 |
scholar | rs120074154 |
rs120074154 | |
pharmgkb | rs120074154 |
gwascentral | rs120074154 |
openSNP | rs120074154 |
23andMe | rs120074154 |
SNPshot | rs120074154 |
SNPdbe | rs120074154 |
MSV3d | rs120074154 |
GWAS Ctlg | rs120074154 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs120074154(T;T) |
Alt | rs120074154(T;T) |
Reference | Rs120074154(C;C) |
Significance | Pathogenic |
Disease | Cohen syndrome |
Variation | info |
Gene | VPS13B |
CLNDBN | Cohen syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.100866430C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002959.3, |