Have questions? Visit https://www.reddit.com/r/SNPedia

rs386834084

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834084(-;-)
Make rs386834084(-;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position99511138
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834084
ebirs386834084
HLIrs386834084
Exacrs386834084
Varsomers386834084
Maprs386834084
PheGenIrs386834084
hapmaprs386834084
1000 genomesrs386834084
hgdprs386834084
ensemblrs386834084
gopubmedrs386834084
geneviewrs386834084
scholarrs386834084
googlers386834084
pharmgkbrs386834084
gwascentralrs386834084
openSNPrs386834084
23andMers386834084
23andMe allrs386834084
SNP Nexus

SNPshotrs386834084
SNPdbers386834084
MSV3drs386834084
GWAS Ctlgrs386834084
Max Magnitude0
ClinVar
Risk rs386834084(;)
Alt rs386834084(;)
Reference rs386834084(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100523366delA
CLNSRC ClinVar
CLNACC RCV000050075.1,


[PMID 15141358OA-icon.png] Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.