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rs1057517309

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517309(-;A)
Make rs1057517309(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99642362
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517309
dbSNP (old)rs1057517309
ClinGenrs1057517309
ebirs1057517309
HLIrs1057517309
Exacrs1057517309
Gnomadrs1057517309
Varsomers1057517309
Maprs1057517309
PheGenIrs1057517309
Biobankrs1057517309
1000 genomesrs1057517309
hgdprs1057517309
ensemblrs1057517309
gopubmedrs1057517309
geneviewrs1057517309
scholarrs1057517309
googlers1057517309
pharmgkbrs1057517309
gwascentralrs1057517309
openSNPrs1057517309
23andMers1057517309
23andMe allrs1057517309
SNPshotrs1057517309
SNPdbers1057517309
MSV3drs1057517309
GWAS Ctlgrs1057517309
Max Magnitude0
ClinVar
Risk rs1057517309(A;A)
Alt rs1057517309(A;A)
Reference Rs1057517309(-;-)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100654590dupA
CLNSRC
CLNACC RCV000409835.1,