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rs386834095

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834095(-;-)
Make rs386834095(-;T)
Make rs386834095(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99642128
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834095
ebirs386834095
HLIrs386834095
Exacrs386834095
Varsomers386834095
Maprs386834095
PheGenIrs386834095
hapmaprs386834095
1000 genomesrs386834095
hgdprs386834095
ensemblrs386834095
gopubmedrs386834095
geneviewrs386834095
scholarrs386834095
googlers386834095
pharmgkbrs386834095
gwascentralrs386834095
openSNPrs386834095
23andMers386834095
23andMe allrs386834095
SNP Nexus

SNPshotrs386834095
SNPdbers386834095
MSV3drs386834095
GWAS Ctlgrs386834095
Max Magnitude0
ClinVar
Risk rs386834095(T;T)
Alt rs386834095(T;T)
Reference rs386834095(;)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100654356_100654357insT
CLNSRC ClinVar
CLNACC RCV000050088.1,


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