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rs1057517295

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517295(A;A)
Make rs1057517295(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99096433
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517295
dbSNP (old)rs1057517295
ClinGenrs1057517295
ebirs1057517295
HLIrs1057517295
Exacrs1057517295
Gnomadrs1057517295
Varsomers1057517295
Maprs1057517295
PheGenIrs1057517295
Biobankrs1057517295
1000 genomesrs1057517295
hgdprs1057517295
ensemblrs1057517295
gopubmedrs1057517295
geneviewrs1057517295
scholarrs1057517295
googlers1057517295
pharmgkbrs1057517295
gwascentralrs1057517295
openSNPrs1057517295
23andMers1057517295
23andMe allrs1057517295
SNPshotrs1057517295
SNPdbers1057517295
MSV3drs1057517295
GWAS Ctlgrs1057517295
Max Magnitude0
ClinVar
Risk rs1057517295(A;A) rs1057517295(T;T)
Alt rs1057517295(A;A) rs1057517295(T;T)
Reference Rs1057517295(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome Abnormality of brain morphology
Variation info
Gene VPS13B
CLNDBN Cohen syndrome Abnormality of brain morphology
Reversed 0
HGVS NC_000008.10:g.100108661G>A; NC_000008.10:g.100108661G>T
CLNSRC
CLNACC RCV000411090.1, RCV000454258.1,