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rs386834117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
(GA;GA) 0 common in clinvar
Make rs386834117(-;-)
Make rs386834117(-;GA)
ReferenceGRCh38 38.1/141
Chromosome8
Position99115853
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834117
ebirs386834117
HLIrs386834117
Exacrs386834117
Varsomers386834117
Maprs386834117
PheGenIrs386834117
hapmaprs386834117
1000 genomesrs386834117
hgdprs386834117
ensemblrs386834117
gopubmedrs386834117
geneviewrs386834117
scholarrs386834117
googlers386834117
pharmgkbrs386834117
gwascentralrs386834117
openSNPrs386834117
23andMers386834117
23andMe allrs386834117
SNP Nexus

SNPshotrs386834117
SNPdbers386834117
MSV3drs386834117
GWAS Ctlgrs386834117
Max Magnitude0
ClinVar
Risk rs386834117(;)
Alt rs386834117(;)
Reference rs386834117(AG;AG)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100128081_100128082delGA
CLNSRC ClinVar
CLNACC RCV000050111.1,


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