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rs180177367

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs180177367(-;-)
Make rs180177367(-;GG)
ReferenceGRCh38 38.1/141
Chromosome8
Position99766970
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177367
ebirs180177367
HLIrs180177367
Exacrs180177367
Varsomers180177367
Maprs180177367
PheGenIrs180177367
hapmaprs180177367
1000 genomesrs180177367
hgdprs180177367
ensemblrs180177367
gopubmedrs180177367
geneviewrs180177367
scholarrs180177367
googlers180177367
pharmgkbrs180177367
gwascentralrs180177367
openSNPrs180177367
23andMers180177367
23andMe allrs180177367
SNP Nexus

SNPshotrs180177367
SNPdbers180177367
MSV3drs180177367
GWAS Ctlgrs180177367
Max Magnitude0
ClinVar
Risk rs180177367(ATGGAGC;ATGGAGC)
Alt rs180177367(ATGGAGC;ATGGAGC)
Reference rs180177367(GG;GG)
Significance Pathogenic
Disease not provided
Variation info
Gene VPS13B
CLNDBN not provided
Reversed 0
HGVS NC_000008.10:g.100779198_100779199delGGinsATGGAGC
CLNSRC ClinVar
CLNACC RCV000058904.1,


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