Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517029

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517029(A;A)
Make rs1057517029(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99013936
GeneLOC105375666, VPS13B
is asnp
is mentioned by
dbSNPrs1057517029
dbSNP (old)rs1057517029
ClinGenrs1057517029
ebirs1057517029
HLIrs1057517029
Exacrs1057517029
Gnomadrs1057517029
Varsomers1057517029
Maprs1057517029
PheGenIrs1057517029
Biobankrs1057517029
1000 genomesrs1057517029
hgdprs1057517029
ensemblrs1057517029
gopubmedrs1057517029
geneviewrs1057517029
scholarrs1057517029
googlers1057517029
pharmgkbrs1057517029
gwascentralrs1057517029
openSNPrs1057517029
23andMers1057517029
23andMe allrs1057517029
SNPshotrs1057517029
SNPdbers1057517029
MSV3drs1057517029
GWAS Ctlgrs1057517029
Max Magnitude0
ClinVar
Risk rs1057517029(A;A)
Alt rs1057517029(A;A)
Reference Rs1057517029(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100026164G>A
CLNSRC
CLNACC RCV000410983.1,