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rs386834115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834115(A;G)
Make rs386834115(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99819410
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834115
ebirs386834115
HLIrs386834115
Exacrs386834115
Varsomers386834115
Maprs386834115
PheGenIrs386834115
hapmaprs386834115
1000 genomesrs386834115
hgdprs386834115
ensemblrs386834115
gopubmedrs386834115
geneviewrs386834115
scholarrs386834115
googlers386834115
pharmgkbrs386834115
gwascentralrs386834115
openSNPrs386834115
23andMers386834115
23andMe allrs386834115
SNP Nexus

SNPshotrs386834115
SNPdbers386834115
MSV3drs386834115
GWAS Ctlgrs386834115
Max Magnitude0
ClinVar
Risk rs386834115(G;G)
Alt rs386834115(G;G)
Reference rs386834115(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100831638A>G
CLNSRC ClinVar
CLNACC RCV000050109.1,


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