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rs1057516971

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516971(-;-)
Make rs1057516971(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99121279
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516971
dbSNP (old)rs1057516971
ClinGenrs1057516971
ebirs1057516971
HLIrs1057516971
Exacrs1057516971
Gnomadrs1057516971
Varsomers1057516971
Maprs1057516971
PheGenIrs1057516971
Biobankrs1057516971
1000 genomesrs1057516971
hgdprs1057516971
ensemblrs1057516971
gopubmedrs1057516971
geneviewrs1057516971
scholarrs1057516971
googlers1057516971
pharmgkbrs1057516971
gwascentralrs1057516971
openSNPrs1057516971
23andMers1057516971
23andMe allrs1057516971
SNPshotrs1057516971
SNPdbers1057516971
MSV3drs1057516971
GWAS Ctlgrs1057516971
Max Magnitude0
ClinVar
Risk rs1057516971(-;-)
Alt rs1057516971(-;-)
Reference Rs1057516971(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100133507delC
CLNSRC
CLNACC RCV000412362.1,