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rs386834070

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834070(C;T)
Make rs386834070(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99134644
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834070
ebirs386834070
HLIrs386834070
Exacrs386834070
Varsomers386834070
Maprs386834070
PheGenIrs386834070
hapmaprs386834070
1000 genomesrs386834070
hgdprs386834070
ensemblrs386834070
gopubmedrs386834070
geneviewrs386834070
scholarrs386834070
googlers386834070
pharmgkbrs386834070
gwascentralrs386834070
openSNPrs386834070
23andMers386834070
23andMe allrs386834070
SNP Nexus

SNPshotrs386834070
SNPdbers386834070
MSV3drs386834070
GWAS Ctlgrs386834070
Max Magnitude0
ClinVar
Risk rs386834070(T;T)
Alt rs386834070(T;T)
Reference rs386834070(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100146872C>T
CLNSRC ClinVar
CLNACC RCV000050058.1,


[PMID 15173253OA-icon.png] Broader geographical spectrum of Cohen syndrome due to COH1 mutations.