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rs180177362

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAGTGTGGCTCAAGTTCA;AAGTGTGGCTCAAGTTCA) 0 common in clinvar
(AGTGTGGCTCAAGTTCAA;AGTGTGGCTCAAGTTCAA) 0 common in clinvar
Make rs180177362(-;-)
Make rs180177362(-;AGTGTGGCTCAAGTTCAA)
ReferenceGRCh38 38.1/141
Chromosome8
Position99577553
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177362
dbSNP (old)rs180177362
ClinGenrs180177362
ebirs180177362
HLIrs180177362
Exacrs180177362
Varsomers180177362
Maprs180177362
PheGenIrs180177362
Biobankrs180177362
1000 genomesrs180177362
hgdprs180177362
ensemblrs180177362
gopubmedrs180177362
geneviewrs180177362
scholarrs180177362
googlers180177362
pharmgkbrs180177362
gwascentralrs180177362
openSNPrs180177362
23andMers180177362
23andMe allrs180177362
SNP Nexus

SNPshotrs180177362
SNPdbers180177362
MSV3drs180177362
GWAS Ctlgrs180177362
Max Magnitude0
ClinVar
Risk rs180177362(-;-)
Alt rs180177362(-;-)
Reference Rs180177362(AAGTGTGGCTCAAGTTCA;AAGTGTGGCTCAAGTTCA)
Significance Pathogenic
Disease Cohen syndrome not provided
Variation info
Gene VPS13B
CLNDBN Cohen syndrome not provided
Reversed 0
HGVS NC_000008.10:g.100589781_100589798del18
CLNSRC ClinVar
CLNACC RCV000050084.1, RCV000058898.1,


[PMID 16648375OA-icon.png] Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.