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rs1057516484

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516484(A;A)
Make rs1057516484(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99818485
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516484
dbSNP (old)rs1057516484
ClinGenrs1057516484
ebirs1057516484
HLIrs1057516484
Exacrs1057516484
Gnomadrs1057516484
Varsomers1057516484
Maprs1057516484
PheGenIrs1057516484
Biobankrs1057516484
1000 genomesrs1057516484
hgdprs1057516484
ensemblrs1057516484
gopubmedrs1057516484
geneviewrs1057516484
scholarrs1057516484
googlers1057516484
pharmgkbrs1057516484
gwascentralrs1057516484
openSNPrs1057516484
23andMers1057516484
23andMe allrs1057516484
SNPshotrs1057516484
SNPdbers1057516484
MSV3drs1057516484
GWAS Ctlgrs1057516484
Max Magnitude0
ClinVar
Risk rs1057516484(A;A)
Alt rs1057516484(A;A)
Reference Rs1057516484(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100830713G>A
CLNSRC
CLNACC RCV000410476.1,