Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516912

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516912(-;-)
Make rs1057516912(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99442430
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516912
dbSNP (old)rs1057516912
ClinGenrs1057516912
ebirs1057516912
HLIrs1057516912
Exacrs1057516912
Gnomadrs1057516912
Varsomers1057516912
Maprs1057516912
PheGenIrs1057516912
Biobankrs1057516912
1000 genomesrs1057516912
hgdprs1057516912
ensemblrs1057516912
gopubmedrs1057516912
geneviewrs1057516912
scholarrs1057516912
googlers1057516912
pharmgkbrs1057516912
gwascentralrs1057516912
openSNPrs1057516912
23andMers1057516912
23andMe allrs1057516912
SNPshotrs1057516912
SNPdbers1057516912
MSV3drs1057516912
GWAS Ctlgrs1057516912
Max Magnitude0
ClinVar
Risk rs1057516912(-;-)
Alt rs1057516912(-;-)
Reference Rs1057516912(T;T)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100454658delT
CLNSRC
CLNACC RCV000409348.1,