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rs1057516726

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTTA;CTTA) 0 common in clinvar
Make rs1057516726(-;-)
Make rs1057516726(-;ACTT)
Make rs1057516726(ACTT;ACTT)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99115838
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516726
dbSNP (classic)rs1057516726
ClinGenrs1057516726
ebirs1057516726
HLIrs1057516726
Exacrs1057516726
Gnomadrs1057516726
Varsomers1057516726
LitVarrs1057516726
Maprs1057516726
PheGenIrs1057516726
Biobankrs1057516726
1000 genomesrs1057516726
hgdprs1057516726
ensemblrs1057516726
geneviewrs1057516726
scholarrs1057516726
googlers1057516726
pharmgkbrs1057516726
gwascentralrs1057516726
openSNPrs1057516726
23andMers1057516726
23andMe allrs1057516726
SNPshotrs1057516726
SNPdbers1057516726
MSV3drs1057516726
GWAS Ctlgrs1057516726
Max Magnitude0
ClinVar
Risk rs1057516726(-;-)
Alt rs1057516726(-;-)
Reference Rs1057516726(CTTA;CTTA)
Significance Probable-Pathogenic
Disease Cohen syndrome not provided
Variation info
Gene VPS13B
CLNDBN Cohen syndrome not provided
Reversed 0
HGVS NC_000008.10:g.100128066_100128069delACTT
CLNSRC
CLNACC RCV000412175.1, RCV000480446.1,