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rs386834072

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATTGT;ATTGT) 0 common in clinvar
(GTATT;GTATT) 0 common in clinvar
Make rs386834072(-;-)
Make rs386834072(-;ATTGT)
ReferenceGRCh38 38.1/141
Chromosome8
Position99134694
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834072
ebirs386834072
HLIrs386834072
Exacrs386834072
Varsomers386834072
Maprs386834072
PheGenIrs386834072
hapmaprs386834072
1000 genomesrs386834072
hgdprs386834072
ensemblrs386834072
gopubmedrs386834072
geneviewrs386834072
scholarrs386834072
googlers386834072
pharmgkbrs386834072
gwascentralrs386834072
openSNPrs386834072
23andMers386834072
23andMe allrs386834072
SNP Nexus

SNPshotrs386834072
SNPdbers386834072
MSV3drs386834072
GWAS Ctlgrs386834072
Max Magnitude0
ClinVar
Risk rs386834072(;)
Alt rs386834072(;)
Reference rs386834072(GTATT;GTATT)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100146922_100146926delATTGT
CLNSRC ClinVar
CLNACC RCV000050060.1,


[PMID 19006247] Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.