Have questions? Visit https://www.reddit.com/r/SNPedia

rs386834104

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834104(A;G)
Make rs386834104(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99720944
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834104
ebirs386834104
HLIrs386834104
Exacrs386834104
Varsomers386834104
Maprs386834104
PheGenIrs386834104
hapmaprs386834104
1000 genomesrs386834104
hgdprs386834104
ensemblrs386834104
gopubmedrs386834104
geneviewrs386834104
scholarrs386834104
googlers386834104
pharmgkbrs386834104
gwascentralrs386834104
openSNPrs386834104
23andMers386834104
23andMe allrs386834104
SNP Nexus

SNPshotrs386834104
SNPdbers386834104
MSV3drs386834104
GWAS Ctlgrs386834104
Max Magnitude0
ClinVar
Risk rs386834104(G;G)
Alt rs386834104(G;G)
Reference rs386834104(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100733172A>G
CLNSRC ClinVar
CLNACC RCV000050098.1,


[PMID 15154116OA-icon.png] Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.