rs386834067
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CAGTG;CAGTG) | 0 | common in clinvar |
Make rs386834067(AA;AA) |
Make rs386834067(AA;CAGTG) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 99871657 |
Gene | VPS13B |
is a | snp |
is | mentioned by |
dbSNP | rs386834067 |
dbSNP (classic) | rs386834067 |
ClinGen | rs386834067 |
ebi | rs386834067 |
HLI | rs386834067 |
Exac | rs386834067 |
Gnomad | rs386834067 |
Varsome | rs386834067 |
LitVar | rs386834067 |
Map | rs386834067 |
PheGenI | rs386834067 |
Biobank | rs386834067 |
1000 genomes | rs386834067 |
hgdp | rs386834067 |
ensembl | rs386834067 |
geneview | rs386834067 |
scholar | rs386834067 |
rs386834067 | |
pharmgkb | rs386834067 |
gwascentral | rs386834067 |
openSNP | rs386834067 |
23andMe | rs386834067 |
SNPshot | rs386834067 |
SNPdbe | rs386834067 |
MSV3d | rs386834067 |
GWAS Ctlg | rs386834067 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386834067(AA;AA) rs386834067(AGAA;AGAA) |
Alt | rs386834067(AA;AA) rs386834067(AGAA;AGAA) |
Reference | Rs386834067(CAGTG;CAGTG) |
Significance | Probable-Pathogenic |
Disease | Cohen syndrome |
Variation | info |
Gene | VPS13B |
CLNDBN | Cohen syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.100883885_100883889delCAGTGinsAA; NC_000008.10:g.100883885_100883889delCAGTGinsAGAA |
CLNSRC | ClinVar |
CLNACC | RCV000050054.1, RCV000169612.1, |
[PMID 16648375] Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.