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rs386834071

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834071(G;T)
Make rs386834071(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99134650
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834071
ebirs386834071
HLIrs386834071
Exacrs386834071
Varsomers386834071
Maprs386834071
PheGenIrs386834071
hapmaprs386834071
1000 genomesrs386834071
hgdprs386834071
ensemblrs386834071
gopubmedrs386834071
geneviewrs386834071
scholarrs386834071
googlers386834071
pharmgkbrs386834071
gwascentralrs386834071
openSNPrs386834071
23andMers386834071
23andMe allrs386834071
SNP Nexus

SNPshotrs386834071
SNPdbers386834071
MSV3drs386834071
GWAS Ctlgrs386834071
Max Magnitude0
ClinVar
Risk rs386834071(T;T)
Alt rs386834071(T;T)
Reference rs386834071(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100146878G>T
CLNSRC ClinVar
CLNACC RCV000050059.1,


[PMID 17383910] Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features.