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rs386834068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834068(-;-)
Make rs386834068(-;ATG)
Make rs386834068(ATG;ATG)
ReferenceGRCh38 38.1/142
Chromosome8
Position99875424
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834068
ebirs386834068
HLIrs386834068
Exacrs386834068
Varsomers386834068
Maprs386834068
PheGenIrs386834068
hapmaprs386834068
1000 genomesrs386834068
hgdprs386834068
ensemblrs386834068
gopubmedrs386834068
geneviewrs386834068
scholarrs386834068
googlers386834068
pharmgkbrs386834068
gwascentralrs386834068
openSNPrs386834068
23andMers386834068
23andMe allrs386834068
SNP Nexus

SNPshotrs386834068
SNPdbers386834068
MSV3drs386834068
GWAS Ctlgrs386834068
Max Magnitude0
ClinVar
Risk rs386834068(GAT;GAT)
Alt rs386834068(GAT;GAT)
Reference rs386834068(;)
Significance Probable-Pathogenic
Disease Cohen syndrome not provided
Variation info
Gene VPS13B
CLNDBN Cohen syndrome not provided
Reversed 0
HGVS NC_000008.10:g.100887650_100887652dupATG
CLNSRC HGMD
CLNACC RCV000050055.1, RCV000081876.4,