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rs1057517376

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs1057517376(-;-)
Make rs1057517376(-;GC)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99861893
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517376
dbSNP (old)rs1057517376
ClinGenrs1057517376
ebirs1057517376
HLIrs1057517376
Exacrs1057517376
Gnomadrs1057517376
Varsomers1057517376
Maprs1057517376
PheGenIrs1057517376
Biobankrs1057517376
1000 genomesrs1057517376
hgdprs1057517376
ensemblrs1057517376
gopubmedrs1057517376
geneviewrs1057517376
scholarrs1057517376
googlers1057517376
pharmgkbrs1057517376
gwascentralrs1057517376
openSNPrs1057517376
23andMers1057517376
23andMe allrs1057517376
SNPshotrs1057517376
SNPdbers1057517376
MSV3drs1057517376
GWAS Ctlgrs1057517376
Max Magnitude0
ClinVar
Risk rs1057517376(-;-)
Alt rs1057517376(-;-)
Reference Rs1057517376(GC;GC)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100874121_100874122delGC
CLNSRC
CLNACC RCV000412443.1,