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rs386834056

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTCT;CTCT) 0 common in clinvar
(TCTC;TCTC) 0 common in clinvar
Make rs386834056(-;-)
Make rs386834056(-;TCTC)
ReferenceGRCh38 38.1/141
Chromosome8
Position99854155
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834056
ebirs386834056
HLIrs386834056
Exacrs386834056
Varsomers386834056
Maprs386834056
PheGenIrs386834056
hapmaprs386834056
1000 genomesrs386834056
hgdprs386834056
ensemblrs386834056
gopubmedrs386834056
geneviewrs386834056
scholarrs386834056
googlers386834056
pharmgkbrs386834056
gwascentralrs386834056
openSNPrs386834056
23andMers386834056
23andMe allrs386834056
SNP Nexus

SNPshotrs386834056
SNPdbers386834056
MSV3drs386834056
GWAS Ctlgrs386834056
Max Magnitude0
ClinVar
Risk rs386834056(;)
Alt rs386834056(;)
Reference rs386834056(CTCT;CTCT)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100866383_100866386delTCTC
CLNSRC ClinVar
CLNACC RCV000050043.1,


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