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rs1057516633

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516633(C;T)
Make rs1057516633(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99642105
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516633
dbSNP (old)rs1057516633
ClinGenrs1057516633
ebirs1057516633
HLIrs1057516633
Exacrs1057516633
Gnomadrs1057516633
Varsomers1057516633
LitVarrs1057516633
Maprs1057516633
PheGenIrs1057516633
Biobankrs1057516633
1000 genomesrs1057516633
hgdprs1057516633
ensemblrs1057516633
gopubmedrs1057516633
geneviewrs1057516633
scholarrs1057516633
googlers1057516633
pharmgkbrs1057516633
gwascentralrs1057516633
openSNPrs1057516633
23andMers1057516633
23andMe allrs1057516633
SNPshotrs1057516633
SNPdbers1057516633
MSV3drs1057516633
GWAS Ctlgrs1057516633
Max Magnitude0
ClinVar
Risk rs1057516633(T;T)
Alt rs1057516633(T;T)
Reference Rs1057516633(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100654333C>T
CLNSRC
CLNACC RCV000412236.1,