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rs386834092

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834092(-;-)
Make rs386834092(-;ATA)
Make rs386834092(ATA;ATA)
ReferenceGRCh38 38.1/141
Chromosome8
Position99556509
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834092
ebirs386834092
HLIrs386834092
Exacrs386834092
Varsomers386834092
Maprs386834092
PheGenIrs386834092
hapmaprs386834092
1000 genomesrs386834092
hgdprs386834092
ensemblrs386834092
gopubmedrs386834092
geneviewrs386834092
scholarrs386834092
googlers386834092
pharmgkbrs386834092
gwascentralrs386834092
openSNPrs386834092
23andMers386834092
23andMe allrs386834092
SNP Nexus

SNPshotrs386834092
SNPdbers386834092
MSV3drs386834092
GWAS Ctlgrs386834092
Max Magnitude0
ClinVar
Risk rs386834092(AAT;AAT)
Alt rs386834092(AAT;AAT)
Reference rs386834092(;)
Significance Pathogenic
Disease Cohen syndrome not provided
Variation info
Gene VPS13B
CLNDBN Cohen syndrome not provided
Reversed 0
HGVS NC_000008.10:g.100568735_100568737dupATA
CLNSRC ClinVar
CLNACC RCV000050083.1, RCV000058895.1,


[PMID 16648375OA-icon.png] Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.