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rs386834119

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834119(G;T)
Make rs386834119(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99832368
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834119
ebirs386834119
HLIrs386834119
Exacrs386834119
Varsomers386834119
Maprs386834119
PheGenIrs386834119
hapmaprs386834119
1000 genomesrs386834119
hgdprs386834119
ensemblrs386834119
gopubmedrs386834119
geneviewrs386834119
scholarrs386834119
googlers386834119
pharmgkbrs386834119
gwascentralrs386834119
openSNPrs386834119
23andMers386834119
23andMe allrs386834119
SNP Nexus

SNPshotrs386834119
SNPdbers386834119
MSV3drs386834119
GWAS Ctlgrs386834119
Max Magnitude0
ClinVar
Risk rs386834119(C,T;C,T)
Alt rs386834119(C,T;C,T)
Reference rs386834119(G;G)
Significance Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100844596G>C; NC_000008.10:g.100844596G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000169632.4, RCV000050112.1,


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