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rs1057516245

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516245(-;-)
Make rs1057516245(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99868336
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516245
dbSNP (classic)rs1057516245
ClinGenrs1057516245
ebirs1057516245
HLIrs1057516245
Exacrs1057516245
Gnomadrs1057516245
Varsomers1057516245
LitVarrs1057516245
Maprs1057516245
PheGenIrs1057516245
Biobankrs1057516245
1000 genomesrs1057516245
hgdprs1057516245
ensemblrs1057516245
geneviewrs1057516245
scholarrs1057516245
googlers1057516245
pharmgkbrs1057516245
gwascentralrs1057516245
openSNPrs1057516245
23andMers1057516245
23andMe allrs1057516245
SNPshotrs1057516245
SNPdbers1057516245
MSV3drs1057516245
GWAS Ctlgrs1057516245
Max Magnitude0
ClinVar
Risk rs1057516245(-;-)
Alt rs1057516245(-;-)
Reference Rs1057516245(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100880564delA
CLNSRC
CLNACC RCV000411609.1,