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rs141703746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs141703746(G;G)
Make rs141703746(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99275256
GeneVPS13B
is asnp
is mentioned by
dbSNPrs141703746
dbSNP (old)rs141703746
ClinGenrs141703746
ebirs141703746
HLIrs141703746
Exacrs141703746
Gnomadrs141703746
Varsomers141703746
LitVarrs141703746
Maprs141703746
PheGenIrs141703746
Biobankrs141703746
1000 genomesrs141703746
hgdprs141703746
ensemblrs141703746
gopubmedrs141703746
geneviewrs141703746
scholarrs141703746
googlers141703746
pharmgkbrs141703746
gwascentralrs141703746
openSNPrs141703746
23andMers141703746
23andMe allrs141703746
SNPshotrs141703746
SNPdbers141703746
MSV3drs141703746
GWAS Ctlgrs141703746
Max Magnitude0
ClinVar
Risk rs141703746(C;C) rs141703746(G;G)
Alt rs141703746(C;C) rs141703746(G;G)
Reference Rs141703746(T;T)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100287484T>C
CLNSRC
CLNACC RCV000410018.1,