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rs1057516857

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516857(A;A)
Make rs1057516857(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99038567
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516857
dbSNP (old)rs1057516857
ClinGenrs1057516857
ebirs1057516857
HLIrs1057516857
Exacrs1057516857
Gnomadrs1057516857
Varsomers1057516857
Maprs1057516857
PheGenIrs1057516857
Biobankrs1057516857
1000 genomesrs1057516857
hgdprs1057516857
ensemblrs1057516857
gopubmedrs1057516857
geneviewrs1057516857
scholarrs1057516857
googlers1057516857
pharmgkbrs1057516857
gwascentralrs1057516857
openSNPrs1057516857
23andMers1057516857
23andMe allrs1057516857
SNPshotrs1057516857
SNPdbers1057516857
MSV3drs1057516857
GWAS Ctlgrs1057516857
Max Magnitude0
ClinVar
Risk rs1057516857(A;A)
Alt rs1057516857(A;A)
Reference Rs1057516857(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100050795G>A
CLNSRC
CLNACC RCV000412317.1,