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rs1057516287

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516287(C;T)
Make rs1057516287(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99699821
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516287
dbSNP (classic)rs1057516287
ClinGenrs1057516287
ebirs1057516287
HLIrs1057516287
Exacrs1057516287
Gnomadrs1057516287
Varsomers1057516287
LitVarrs1057516287
Maprs1057516287
PheGenIrs1057516287
Biobankrs1057516287
1000 genomesrs1057516287
hgdprs1057516287
ensemblrs1057516287
geneviewrs1057516287
scholarrs1057516287
googlers1057516287
pharmgkbrs1057516287
gwascentralrs1057516287
openSNPrs1057516287
23andMers1057516287
23andMe allrs1057516287
SNPshotrs1057516287
SNPdbers1057516287
MSV3drs1057516287
GWAS Ctlgrs1057516287
Max Magnitude0
ClinVar
Risk rs1057516287(T;T)
Alt rs1057516287(T;T)
Reference Rs1057516287(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100712049C>T
CLNSRC
CLNACC RCV000412237.1,