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rs1057517392

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517392(-;-)
Make rs1057517392(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99835552
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517392
dbSNP (old)rs1057517392
ClinGenrs1057517392
ebirs1057517392
HLIrs1057517392
Exacrs1057517392
Gnomadrs1057517392
Varsomers1057517392
Maprs1057517392
PheGenIrs1057517392
Biobankrs1057517392
1000 genomesrs1057517392
hgdprs1057517392
ensemblrs1057517392
gopubmedrs1057517392
geneviewrs1057517392
scholarrs1057517392
googlers1057517392
pharmgkbrs1057517392
gwascentralrs1057517392
openSNPrs1057517392
23andMers1057517392
23andMe allrs1057517392
SNPshotrs1057517392
SNPdbers1057517392
MSV3drs1057517392
GWAS Ctlgrs1057517392
Max Magnitude0
ClinVar
Risk rs1057517392(-;-)
Alt rs1057517392(-;-)
Reference Rs1057517392(T;T)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100847780delT
CLNSRC
CLNACC RCV000412278.1,