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rs386834098

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
(TA;TA) 0 common in clinvar
Make rs386834098(-;-)
Make rs386834098(-;AT)
ReferenceGRCh38 38.1/141
Chromosome8
Position99642324
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834098
ebirs386834098
HLIrs386834098
Exacrs386834098
Varsomers386834098
Maprs386834098
PheGenIrs386834098
hapmaprs386834098
1000 genomesrs386834098
hgdprs386834098
ensemblrs386834098
gopubmedrs386834098
geneviewrs386834098
scholarrs386834098
googlers386834098
pharmgkbrs386834098
gwascentralrs386834098
openSNPrs386834098
23andMers386834098
23andMe allrs386834098
SNP Nexus

SNPshotrs386834098
SNPdbers386834098
MSV3drs386834098
GWAS Ctlgrs386834098
Max Magnitude0
ClinVar
Risk rs386834098(;)
Alt rs386834098(;)
Reference rs386834098(TA;TA)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100654552_100654553delAT
CLNSRC ClinVar
CLNACC RCV000050091.2,


[PMID 15691367] COH1 analysis and linkage study in two Japanese families with Cohen syndrome.