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rs386834069

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCAGCTGTTC;CCAGCTGTTC) 0 common in clinvar
(CCCAGCTGTT;CCCAGCTGTT) 0 common in clinvar
Make rs386834069(-;-)
Make rs386834069(-;CCAGCTGTTC)
ReferenceGRCh38 38.1/141
Chromosome8
Position99875503
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834069
ebirs386834069
HLIrs386834069
Exacrs386834069
Varsomers386834069
Maprs386834069
PheGenIrs386834069
hapmaprs386834069
1000 genomesrs386834069
hgdprs386834069
ensemblrs386834069
gopubmedrs386834069
geneviewrs386834069
scholarrs386834069
googlers386834069
pharmgkbrs386834069
gwascentralrs386834069
openSNPrs386834069
23andMers386834069
23andMe allrs386834069
SNP Nexus

SNPshotrs386834069
SNPdbers386834069
MSV3drs386834069
GWAS Ctlgrs386834069
Max Magnitude0
ClinVar
Risk rs386834069(;)
Alt rs386834069(;)
Reference rs386834069(CCCAGCTGTT;CCCAGCTGTT)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100887731_100887740delCCAGCTGTTC
CLNSRC ClinVar
CLNACC RCV000050056.1,


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