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rs386834060

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834060(A;A)
Make rs386834060(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99861872
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834060
ClinGenrs386834060
ebirs386834060
HLIrs386834060
Exacrs386834060
Varsomers386834060
Maprs386834060
PheGenIrs386834060
hapmaprs386834060
1000 genomesrs386834060
hgdprs386834060
ensemblrs386834060
gopubmedrs386834060
geneviewrs386834060
scholarrs386834060
googlers386834060
pharmgkbrs386834060
gwascentralrs386834060
openSNPrs386834060
23andMers386834060
23andMe allrs386834060
SNP Nexus

SNPshotrs386834060
SNPdbers386834060
MSV3drs386834060
GWAS Ctlgrs386834060
Max Magnitude0
ClinVar
Risk rs386834060(A;A)
Alt rs386834060(A;A)
Reference Rs386834060(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100874100G>A
CLNSRC ClinVar
CLNACC RCV000050047.1,


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