rs886041185
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Chromosome | 8 |
Position | 99835300 |
Gene | VPS13B |
is a | snp |
is | mentioned by |
dbSNP | rs886041185 |
dbSNP (classic) | rs886041185 |
ClinGen | rs886041185 |
ebi | rs886041185 |
HLI | rs886041185 |
Exac | rs886041185 |
Gnomad | rs886041185 |
Varsome | rs886041185 |
LitVar | rs886041185 |
Map | rs886041185 |
PheGenI | rs886041185 |
Biobank | rs886041185 |
1000 genomes | rs886041185 |
hgdp | rs886041185 |
ensembl | rs886041185 |
geneview | rs886041185 |
scholar | rs886041185 |
rs886041185 | |
pharmgkb | rs886041185 |
gwascentral | rs886041185 |
openSNP | rs886041185 |
23andMe | rs886041185 |
SNPshot | rs886041185 |
SNPdbe | rs886041185 |
MSV3d | rs886041185 |
GWAS Ctlg | rs886041185 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886041185(A;A) |
Alt | rs886041185(A;A) |
Reference | Rs886041185(-;-) |
Significance | Pathogenic |
Disease | not provided Cohen syndrome |
Variation | info |
Gene | VPS13B |
CLNDBN | not provided Cohen syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.100847528dupA |
CLNSRC | |
CLNACC | RCV000359731.1, RCV000409967.1, |