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rs386834121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834121(-;-)
Make rs386834121(-;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99835213
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834121
ebirs386834121
HLIrs386834121
Exacrs386834121
Varsomers386834121
Maprs386834121
PheGenIrs386834121
hapmaprs386834121
1000 genomesrs386834121
hgdprs386834121
ensemblrs386834121
gopubmedrs386834121
geneviewrs386834121
scholarrs386834121
googlers386834121
pharmgkbrs386834121
gwascentralrs386834121
openSNPrs386834121
23andMers386834121
23andMe allrs386834121
SNP Nexus

SNPshotrs386834121
SNPdbers386834121
MSV3drs386834121
GWAS Ctlgrs386834121
Max Magnitude0
ClinVar
Risk rs386834121(;)
Alt rs386834121(;)
Reference rs386834121(T;T)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100847441delT
CLNSRC ClinVar
CLNACC RCV000050114.1,


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