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rs180177373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs180177373(-;-)
Make rs180177373(-;AT)
ReferenceGRCh38 38.1/141
Chromosome8
Position99870881
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177373
ebirs180177373
HLIrs180177373
Exacrs180177373
Varsomers180177373
Maprs180177373
PheGenIrs180177373
hapmaprs180177373
1000 genomesrs180177373
hgdprs180177373
ensemblrs180177373
gopubmedrs180177373
geneviewrs180177373
scholarrs180177373
googlers180177373
pharmgkbrs180177373
gwascentralrs180177373
openSNPrs180177373
23andMers180177373
23andMe allrs180177373
SNP Nexus

SNPshotrs180177373
SNPdbers180177373
MSV3drs180177373
GWAS Ctlgrs180177373
Max Magnitude0
ClinVar
Risk rs180177373(;)
Alt rs180177373(;)
Reference rs180177373(AT;AT)
Significance Pathogenic
Disease not provided
Variation info
Gene VPS13B
CLNDBN not provided
Reversed 0
HGVS NC_000008.10:g.100883109_100883110delAT
CLNSRC ClinVar
CLNACC RCV000058888.1,


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