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rs1057516660

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516660(A;T)
Make rs1057516660(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99766903
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516660
dbSNP (classic)rs1057516660
ClinGenrs1057516660
ebirs1057516660
HLIrs1057516660
Exacrs1057516660
Gnomadrs1057516660
Varsomers1057516660
LitVarrs1057516660
Maprs1057516660
PheGenIrs1057516660
Biobankrs1057516660
1000 genomesrs1057516660
hgdprs1057516660
ensemblrs1057516660
geneviewrs1057516660
scholarrs1057516660
googlers1057516660
pharmgkbrs1057516660
gwascentralrs1057516660
openSNPrs1057516660
23andMers1057516660
23andMe allrs1057516660
SNPshotrs1057516660
SNPdbers1057516660
MSV3drs1057516660
GWAS Ctlgrs1057516660
Max Magnitude0
ClinVar
Risk rs1057516660(T;T)
Alt rs1057516660(T;T)
Reference Rs1057516660(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100779131A>T
CLNSRC
CLNACC RCV000410123.1,