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rs180177371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs180177371(-;-)
Make rs180177371(-;AG)
ReferenceGRCh38 38.1/141
Chromosome8
Position99853770
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177371
ebirs180177371
HLIrs180177371
Exacrs180177371
Varsomers180177371
Maprs180177371
PheGenIrs180177371
hapmaprs180177371
1000 genomesrs180177371
hgdprs180177371
ensemblrs180177371
gopubmedrs180177371
geneviewrs180177371
scholarrs180177371
googlers180177371
pharmgkbrs180177371
gwascentralrs180177371
openSNPrs180177371
23andMers180177371
23andMe allrs180177371
SNP Nexus

SNPshotrs180177371
SNPdbers180177371
MSV3drs180177371
GWAS Ctlgrs180177371
Max Magnitude0
ClinVar
Risk rs180177371(;)
Alt rs180177371(;)
Reference rs180177371(AG;AG)
Significance Pathogenic
Disease not provided
Variation info
Gene VPS13B
CLNDBN not provided
Reversed 0
HGVS NC_000008.10:g.100865998_100865999delAG
CLNSRC ClinVar
CLNACC RCV000058886.1,


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