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rs1057516614

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs1057516614(-;-)
Make rs1057516614(-;CC)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99835676
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516614
dbSNP (old)rs1057516614
ClinGenrs1057516614
ebirs1057516614
HLIrs1057516614
Exacrs1057516614
Gnomadrs1057516614
Varsomers1057516614
LitVarrs1057516614
Maprs1057516614
PheGenIrs1057516614
Biobankrs1057516614
1000 genomesrs1057516614
hgdprs1057516614
ensemblrs1057516614
gopubmedrs1057516614
geneviewrs1057516614
scholarrs1057516614
googlers1057516614
pharmgkbrs1057516614
gwascentralrs1057516614
openSNPrs1057516614
23andMers1057516614
23andMe allrs1057516614
SNPshotrs1057516614
SNPdbers1057516614
MSV3drs1057516614
GWAS Ctlgrs1057516614
Max Magnitude0
ClinVar
Risk rs1057516614(-;-)
Alt rs1057516614(-;-)
Reference Rs1057516614(CC;CC)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100847904_100847905delCC
CLNSRC
CLNACC RCV000411812.1,