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

rs386834055

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834055(-;-)
Make rs386834055(-;A)
Make rs386834055(A;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position99853470
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834055
ebirs386834055
HLIrs386834055
Exacrs386834055
Varsomers386834055
Maprs386834055
PheGenIrs386834055
hapmaprs386834055
1000 genomesrs386834055
hgdprs386834055
ensemblrs386834055
gopubmedrs386834055
geneviewrs386834055
scholarrs386834055
googlers386834055
pharmgkbrs386834055
gwascentralrs386834055
openSNPrs386834055
23andMers386834055
23andMe allrs386834055
SNP Nexus

SNPshotrs386834055
SNPdbers386834055
MSV3drs386834055
GWAS Ctlgrs386834055
Max Magnitude0
ClinVar
Risk rs386834055(A;A)
Alt rs386834055(A;A)
Reference rs386834055(;)
Significance Other
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100865698dupA
CLNSRC University Hospital of Geneva
CLNACC RCV000050042.3,


[PMID 22855652OA-icon.png] Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.