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rs386834103

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834103(A;G)
Make rs386834103(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99720343
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834103
ebirs386834103
HLIrs386834103
Exacrs386834103
Varsomers386834103
Maprs386834103
PheGenIrs386834103
hapmaprs386834103
1000 genomesrs386834103
hgdprs386834103
ensemblrs386834103
gopubmedrs386834103
geneviewrs386834103
scholarrs386834103
googlers386834103
pharmgkbrs386834103
gwascentralrs386834103
openSNPrs386834103
23andMers386834103
23andMe allrs386834103
SNP Nexus

SNPshotrs386834103
SNPdbers386834103
MSV3drs386834103
GWAS Ctlgrs386834103
Max Magnitude0
ClinVar
Risk rs386834103(G;G)
Alt rs386834103(G;G)
Reference rs386834103(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100732571A>G
CLNSRC ClinVar
CLNACC RCV000050097.1,


[PMID 15141358OA-icon.png] Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.


[PMID 17383910] Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features.