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rs1057516331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516331(A;A)
Make rs1057516331(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99699777
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516331
dbSNP (classic)rs1057516331
ClinGenrs1057516331
ebirs1057516331
HLIrs1057516331
Exacrs1057516331
Gnomadrs1057516331
Varsomers1057516331
LitVarrs1057516331
Maprs1057516331
PheGenIrs1057516331
Biobankrs1057516331
1000 genomesrs1057516331
hgdprs1057516331
ensemblrs1057516331
geneviewrs1057516331
scholarrs1057516331
googlers1057516331
pharmgkbrs1057516331
gwascentralrs1057516331
openSNPrs1057516331
23andMers1057516331
23andMe allrs1057516331
SNPshotrs1057516331
SNPdbers1057516331
MSV3drs1057516331
GWAS Ctlgrs1057516331
Max Magnitude0
ClinVar
Risk rs1057516331(A;A)
Alt rs1057516331(A;A)
Reference Rs1057516331(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100712005G>A
CLNSRC
CLNACC RCV000411092.1,