rs201454788
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201454788(C;T) |
Make rs201454788(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 218662661 |
Gene | BCS1L |
is a | snp |
is | mentioned by |
dbSNP | rs201454788 |
dbSNP (classic) | rs201454788 |
ClinGen | rs201454788 |
ebi | rs201454788 |
HLI | rs201454788 |
Exac | rs201454788 |
Gnomad | rs201454788 |
Varsome | rs201454788 |
LitVar | rs201454788 |
Map | rs201454788 |
PheGenI | rs201454788 |
Biobank | rs201454788 |
1000 genomes | rs201454788 |
hgdp | rs201454788 |
ensembl | rs201454788 |
geneview | rs201454788 |
scholar | rs201454788 |
rs201454788 | |
pharmgkb | rs201454788 |
gwascentral | rs201454788 |
openSNP | rs201454788 |
23andMe | rs201454788 |
SNPshot | rs201454788 |
SNPdbe | rs201454788 |
MSV3d | rs201454788 |
GWAS Ctlg | rs201454788 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201454788(T;T) |
Alt | rs201454788(T;T) |
Reference | Rs201454788(C;C) |
Significance | Pathogenic |
Disease | not provided BCS1L-Related Disorders |
Variation | info |
Gene | BCS1L |
CLNDBN | not provided BCS1L-Related Disorders |
Reversed | 0 |
HGVS | NC_000002.11:g.219527384C>T |
CLNSRC | |
CLNACC | RCV000195977.2, RCV000368540.1, |