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rs386834120

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834120(A;G)
Make rs386834120(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99835195
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834120
ebirs386834120
HLIrs386834120
Exacrs386834120
Varsomers386834120
Maprs386834120
PheGenIrs386834120
hapmaprs386834120
1000 genomesrs386834120
hgdprs386834120
ensemblrs386834120
gopubmedrs386834120
geneviewrs386834120
scholarrs386834120
googlers386834120
pharmgkbrs386834120
gwascentralrs386834120
openSNPrs386834120
23andMers386834120
23andMe allrs386834120
SNP Nexus

SNPshotrs386834120
SNPdbers386834120
MSV3drs386834120
GWAS Ctlgrs386834120
Max Magnitude0
ClinVar
Risk rs386834120(G;G)
Alt rs386834120(G;G)
Reference rs386834120(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100847423A>G
CLNSRC ClinVar
CLNACC RCV000050113.1,


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