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rs386834106

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834106(A;A)
Make rs386834106(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99776957
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834106
ebirs386834106
HLIrs386834106
Exacrs386834106
Varsomers386834106
Maprs386834106
PheGenIrs386834106
hapmaprs386834106
1000 genomesrs386834106
hgdprs386834106
ensemblrs386834106
gopubmedrs386834106
geneviewrs386834106
scholarrs386834106
googlers386834106
pharmgkbrs386834106
gwascentralrs386834106
openSNPrs386834106
23andMers386834106
23andMe allrs386834106
SNP Nexus

SNPshotrs386834106
SNPdbers386834106
MSV3drs386834106
GWAS Ctlgrs386834106
Max Magnitude0
ClinVar
Risk rs386834106(A;A)
Alt rs386834106(A;A)
Reference rs386834106(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100789185G>A
CLNSRC ClinVar
CLNACC RCV000050100.1,


[PMID 17990063] Clinical and molecular characterization of Italian patients affected by Cohen syndrome.