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rs386834081

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834081(A;A)
Make rs386834081(A;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position99467586
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834081
ebirs386834081
HLIrs386834081
Exacrs386834081
Varsomers386834081
Maprs386834081
PheGenIrs386834081
hapmaprs386834081
1000 genomesrs386834081
hgdprs386834081
ensemblrs386834081
gopubmedrs386834081
geneviewrs386834081
scholarrs386834081
googlers386834081
pharmgkbrs386834081
gwascentralrs386834081
openSNPrs386834081
23andMers386834081
23andMe allrs386834081
SNP Nexus

SNPshotrs386834081
SNPdbers386834081
MSV3drs386834081
GWAS Ctlgrs386834081
Max Magnitude0
ClinVar
Risk rs386834081(A;A)
Alt rs386834081(A;A)
Reference rs386834081(T;T)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100479814T>A
CLNSRC ClinVar
CLNACC RCV000050072.1,