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rs1057517441

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517441(A;A)
Make rs1057517441(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99868288
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517441
dbSNP (old)rs1057517441
ClinGenrs1057517441
ebirs1057517441
HLIrs1057517441
Exacrs1057517441
Gnomadrs1057517441
Varsomers1057517441
Maprs1057517441
PheGenIrs1057517441
Biobankrs1057517441
1000 genomesrs1057517441
hgdprs1057517441
ensemblrs1057517441
gopubmedrs1057517441
geneviewrs1057517441
scholarrs1057517441
googlers1057517441
pharmgkbrs1057517441
gwascentralrs1057517441
openSNPrs1057517441
23andMers1057517441
23andMe allrs1057517441
SNPshotrs1057517441
SNPdbers1057517441
MSV3drs1057517441
GWAS Ctlgrs1057517441
Max Magnitude0
ClinVar
Risk rs1057517441(A;A)
Alt rs1057517441(A;A)
Reference Rs1057517441(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100880516G>A
CLNSRC
CLNACC RCV000412099.1,