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rs1057517236

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517236(G;G)
Make rs1057517236(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99818890
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517236
dbSNP (classic)rs1057517236
ClinGenrs1057517236
ebirs1057517236
HLIrs1057517236
Exacrs1057517236
Gnomadrs1057517236
Varsomers1057517236
LitVarrs1057517236
Maprs1057517236
PheGenIrs1057517236
Biobankrs1057517236
1000 genomesrs1057517236
hgdprs1057517236
ensemblrs1057517236
geneviewrs1057517236
scholarrs1057517236
googlers1057517236
pharmgkbrs1057517236
gwascentralrs1057517236
openSNPrs1057517236
23andMers1057517236
23andMe allrs1057517236
SNPshotrs1057517236
SNPdbers1057517236
MSV3drs1057517236
GWAS Ctlgrs1057517236
Max Magnitude0
ClinVar
Risk rs1057517236(G;G)
Alt rs1057517236(G;G)
Reference Rs1057517236(T;T)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100831118T>G
CLNSRC
CLNACC RCV000410167.1,