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rs386834099

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834099(C;T)
Make rs386834099(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99642342
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834099
ebirs386834099
HLIrs386834099
Exacrs386834099
Varsomers386834099
Maprs386834099
PheGenIrs386834099
hapmaprs386834099
1000 genomesrs386834099
hgdprs386834099
ensemblrs386834099
gopubmedrs386834099
geneviewrs386834099
scholarrs386834099
googlers386834099
pharmgkbrs386834099
gwascentralrs386834099
openSNPrs386834099
23andMers386834099
23andMe allrs386834099
SNP Nexus

SNPshotrs386834099
SNPdbers386834099
MSV3drs386834099
GWAS Ctlgrs386834099
Max Magnitude0
ClinVar
Risk rs386834099(T;T)
Alt rs386834099(T;T)
Reference rs386834099(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100654570C>T
CLNSRC ClinVar
CLNACC RCV000050092.1,


[PMID 15141358OA-icon.png] Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.