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rs386834083

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834083(-;-)
Make rs386834083(-;T)
Make rs386834083(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position99096424
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834083
ebirs386834083
HLIrs386834083
Exacrs386834083
Varsomers386834083
Maprs386834083
PheGenIrs386834083
hapmaprs386834083
1000 genomesrs386834083
hgdprs386834083
ensemblrs386834083
gopubmedrs386834083
geneviewrs386834083
scholarrs386834083
googlers386834083
pharmgkbrs386834083
gwascentralrs386834083
openSNPrs386834083
23andMers386834083
23andMe allrs386834083
SNP Nexus

SNPshotrs386834083
SNPdbers386834083
MSV3drs386834083
GWAS Ctlgrs386834083
Max Magnitude0
ClinVar
Risk rs386834083(T;T)
Alt rs386834083(T;T)
Reference rs386834083(;)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100108652dupT
CLNSRC ClinVar
CLNACC RCV000050074.1,