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rs1057516621

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516621(-;-)
Make rs1057516621(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99835571
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516621
dbSNP (classic)rs1057516621
ClinGenrs1057516621
ebirs1057516621
HLIrs1057516621
Exacrs1057516621
Gnomadrs1057516621
Varsomers1057516621
LitVarrs1057516621
Maprs1057516621
PheGenIrs1057516621
Biobankrs1057516621
1000 genomesrs1057516621
hgdprs1057516621
ensemblrs1057516621
geneviewrs1057516621
scholarrs1057516621
googlers1057516621
pharmgkbrs1057516621
gwascentralrs1057516621
openSNPrs1057516621
23andMers1057516621
23andMe allrs1057516621
SNPshotrs1057516621
SNPdbers1057516621
MSV3drs1057516621
GWAS Ctlgrs1057516621
Max Magnitude0
ClinVar
Risk rs1057516621(-;-)
Alt rs1057516621(-;-)
Reference Rs1057516621(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100847799delA
CLNSRC
CLNACC RCV000412084.1,