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rs1057516834

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs1057516834(AA;T)
Make rs1057516834(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99391694
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516834
dbSNP (classic)rs1057516834
ClinGenrs1057516834
ebirs1057516834
HLIrs1057516834
Exacrs1057516834
Gnomadrs1057516834
Varsomers1057516834
LitVarrs1057516834
Maprs1057516834
PheGenIrs1057516834
Biobankrs1057516834
1000 genomesrs1057516834
hgdprs1057516834
ensemblrs1057516834
geneviewrs1057516834
scholarrs1057516834
googlers1057516834
pharmgkbrs1057516834
gwascentralrs1057516834
openSNPrs1057516834
23andMers1057516834
23andMe allrs1057516834
SNPshotrs1057516834
SNPdbers1057516834
MSV3drs1057516834
GWAS Ctlgrs1057516834
Max Magnitude0
ClinVar
Risk rs1057516834(T;T)
Alt rs1057516834(T;T)
Reference Rs1057516834(AA;AA)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100403922_100403923delAAinsT
CLNSRC
CLNACC RCV000409159.1,