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rs1057516694

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516694(G;T)
Make rs1057516694(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99661353
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516694
dbSNP (old)rs1057516694
ClinGenrs1057516694
ebirs1057516694
HLIrs1057516694
Exacrs1057516694
Gnomadrs1057516694
Varsomers1057516694
Maprs1057516694
PheGenIrs1057516694
Biobankrs1057516694
1000 genomesrs1057516694
hgdprs1057516694
ensemblrs1057516694
gopubmedrs1057516694
geneviewrs1057516694
scholarrs1057516694
googlers1057516694
pharmgkbrs1057516694
gwascentralrs1057516694
openSNPrs1057516694
23andMers1057516694
23andMe allrs1057516694
SNPshotrs1057516694
SNPdbers1057516694
MSV3drs1057516694
GWAS Ctlgrs1057516694
Max Magnitude0
ClinVar
Risk rs1057516694(T;T)
Alt rs1057516694(T;T)
Reference Rs1057516694(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100673581G>T
CLNSRC
CLNACC RCV000411803.1,