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rs386834065

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834065(-;-)
Make rs386834065(-;A)
ReferenceGRCh38 38.1/142
Chromosome8
Position99871475
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834065
ebirs386834065
HLIrs386834065
Exacrs386834065
Varsomers386834065
Maprs386834065
PheGenIrs386834065
hapmaprs386834065
1000 genomesrs386834065
hgdprs386834065
ensemblrs386834065
gopubmedrs386834065
geneviewrs386834065
scholarrs386834065
googlers386834065
pharmgkbrs386834065
gwascentralrs386834065
openSNPrs386834065
23andMers386834065
23andMe allrs386834065
SNP Nexus

SNPshotrs386834065
SNPdbers386834065
MSV3drs386834065
GWAS Ctlgrs386834065
Max Magnitude0
ClinVar
Risk rs386834065(;)
Alt rs386834065(;)
Reference rs386834065(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100883703delA
CLNSRC ClinVar
CLNACC RCV000050052.1,