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rs1057517137

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517137(-;T)
Make rs1057517137(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99854062
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517137
dbSNP (old)rs1057517137
ClinGenrs1057517137
ebirs1057517137
HLIrs1057517137
Exacrs1057517137
Gnomadrs1057517137
Varsomers1057517137
Maprs1057517137
PheGenIrs1057517137
Biobankrs1057517137
1000 genomesrs1057517137
hgdprs1057517137
ensemblrs1057517137
gopubmedrs1057517137
geneviewrs1057517137
scholarrs1057517137
googlers1057517137
pharmgkbrs1057517137
gwascentralrs1057517137
openSNPrs1057517137
23andMers1057517137
23andMe allrs1057517137
SNPshotrs1057517137
SNPdbers1057517137
MSV3drs1057517137
GWAS Ctlgrs1057517137
Max Magnitude0
ClinVar
Risk rs1057517137(T;T)
Alt rs1057517137(T;T)
Reference Rs1057517137(-;-)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100866290dupT
CLNSRC
CLNACC RCV000410386.1,