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rs1057517283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517283(-;-)
Make rs1057517283(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99142991
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517283
dbSNP (classic)rs1057517283
ClinGenrs1057517283
ebirs1057517283
HLIrs1057517283
Exacrs1057517283
Gnomadrs1057517283
Varsomers1057517283
LitVarrs1057517283
Maprs1057517283
PheGenIrs1057517283
Biobankrs1057517283
1000 genomesrs1057517283
hgdprs1057517283
ensemblrs1057517283
geneviewrs1057517283
scholarrs1057517283
googlers1057517283
pharmgkbrs1057517283
gwascentralrs1057517283
openSNPrs1057517283
23andMers1057517283
23andMe allrs1057517283
SNPshotrs1057517283
SNPdbers1057517283
MSV3drs1057517283
GWAS Ctlgrs1057517283
Max Magnitude0
ClinVar
Risk rs1057517283(-;-)
Alt rs1057517283(-;-)
Reference Rs1057517283(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100155219delG
CLNSRC
CLNACC RCV000410722.1,