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rs386834062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834062(-;-)
Make rs386834062(-;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position99870822
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834062
ebirs386834062
HLIrs386834062
Exacrs386834062
Varsomers386834062
Maprs386834062
PheGenIrs386834062
hapmaprs386834062
1000 genomesrs386834062
hgdprs386834062
ensemblrs386834062
gopubmedrs386834062
geneviewrs386834062
scholarrs386834062
googlers386834062
pharmgkbrs386834062
gwascentralrs386834062
openSNPrs386834062
23andMers386834062
23andMe allrs386834062
SNP Nexus

SNPshotrs386834062
SNPdbers386834062
MSV3drs386834062
GWAS Ctlgrs386834062
Max Magnitude0
ClinVar
Risk rs386834062(;)
Alt rs386834062(;)
Reference rs386834062(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100883050delA
CLNSRC ClinVar
CLNACC RCV000050049.1,


[PMID 20921020] Cohen syndrome diagnosis using whole genome arrays.