rs386834103
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs386834103(A;G) |
Make rs386834103(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 99720343 |
Gene | VPS13B |
is a | snp |
is | mentioned by |
dbSNP | rs386834103 |
dbSNP (classic) | rs386834103 |
ClinGen | rs386834103 |
ebi | rs386834103 |
HLI | rs386834103 |
Exac | rs386834103 |
Gnomad | rs386834103 |
Varsome | rs386834103 |
LitVar | rs386834103 |
Map | rs386834103 |
PheGenI | rs386834103 |
Biobank | rs386834103 |
1000 genomes | rs386834103 |
hgdp | rs386834103 |
ensembl | rs386834103 |
geneview | rs386834103 |
scholar | rs386834103 |
rs386834103 | |
pharmgkb | rs386834103 |
gwascentral | rs386834103 |
openSNP | rs386834103 |
23andMe | rs386834103 |
SNPshot | rs386834103 |
SNPdbe | rs386834103 |
MSV3d | rs386834103 |
GWAS Ctlg | rs386834103 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386834103(G;G) |
Alt | rs386834103(G;G) |
Reference | Rs386834103(A;A) |
Significance | Pathogenic |
Disease | Cohen syndrome not provided |
Variation | info |
Gene | VPS13B |
CLNDBN | Cohen syndrome not provided |
Reversed | 0 |
HGVS | NC_000008.10:g.100732571A>G |
CLNSRC | ClinVar |
CLNACC | RCV000050097.1, RCV000417726.1, |
[PMID 15141358] Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.
[PMID 17383910] Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features.