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rs1057517385

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517385(A;A)
Make rs1057517385(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99871552
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517385
dbSNP (old)rs1057517385
ClinGenrs1057517385
ebirs1057517385
HLIrs1057517385
Exacrs1057517385
Gnomadrs1057517385
Varsomers1057517385
Maprs1057517385
PheGenIrs1057517385
Biobankrs1057517385
1000 genomesrs1057517385
hgdprs1057517385
ensemblrs1057517385
gopubmedrs1057517385
geneviewrs1057517385
scholarrs1057517385
googlers1057517385
pharmgkbrs1057517385
gwascentralrs1057517385
openSNPrs1057517385
23andMers1057517385
23andMe allrs1057517385
SNPshotrs1057517385
SNPdbers1057517385
MSV3drs1057517385
GWAS Ctlgrs1057517385
Max Magnitude0
ClinVar
Risk rs1057517385(A;A)
Alt rs1057517385(A;A)
Reference Rs1057517385(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100883780C>A
CLNSRC
CLNACC RCV000410701.1,