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rs1057517328

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517328(-;T)
Make rs1057517328(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99875552
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517328
dbSNP (old)rs1057517328
ClinGenrs1057517328
ebirs1057517328
HLIrs1057517328
Exacrs1057517328
Gnomadrs1057517328
Varsomers1057517328
Maprs1057517328
PheGenIrs1057517328
Biobankrs1057517328
1000 genomesrs1057517328
hgdprs1057517328
ensemblrs1057517328
gopubmedrs1057517328
geneviewrs1057517328
scholarrs1057517328
googlers1057517328
pharmgkbrs1057517328
gwascentralrs1057517328
openSNPrs1057517328
23andMers1057517328
23andMe allrs1057517328
SNPshotrs1057517328
SNPdbers1057517328
MSV3drs1057517328
GWAS Ctlgrs1057517328
Max Magnitude0
ClinVar
Risk rs1057517328(T;T)
Alt rs1057517328(T;T)
Reference Rs1057517328(-;-)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100887780dupT
CLNSRC
CLNACC RCV000410555.1,