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rs386834067

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAGTG;CAGTG) 0 common in clinvar
Make rs386834067(AA;AA)
Make rs386834067(AA;CAGTG)
ReferenceGRCh38 38.1/141
Chromosome8
Position99871657
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834067
ebirs386834067
HLIrs386834067
Exacrs386834067
Varsomers386834067
Maprs386834067
PheGenIrs386834067
hapmaprs386834067
1000 genomesrs386834067
hgdprs386834067
ensemblrs386834067
gopubmedrs386834067
geneviewrs386834067
scholarrs386834067
googlers386834067
pharmgkbrs386834067
gwascentralrs386834067
openSNPrs386834067
23andMers386834067
23andMe allrs386834067
SNP Nexus

SNPshotrs386834067
SNPdbers386834067
MSV3drs386834067
GWAS Ctlgrs386834067
Max Magnitude0
ClinVar
Risk rs386834067(AAA,AAGAA;AAA,AAGAA)
Alt rs386834067(AAA,AAGAA;AAA,AAGAA)
Reference rs386834067(ACAGTG;ACAGTG)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100883885_100883889delCAGTGinsAA; NC_000008.10:g.100883885_100883889delCAGTGinsAGAA
CLNSRC ClinVar
CLNACC RCV000050054.1, RCV000169612.1,


[PMID 16648375OA-icon.png] Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.