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rs1057517255

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517255(A;CC)
Make rs1057517255(CC;CC)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99275246
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517255
dbSNP (old)rs1057517255
ClinGenrs1057517255
ebirs1057517255
HLIrs1057517255
Exacrs1057517255
Gnomadrs1057517255
Varsomers1057517255
LitVarrs1057517255
Maprs1057517255
PheGenIrs1057517255
Biobankrs1057517255
1000 genomesrs1057517255
hgdprs1057517255
ensemblrs1057517255
gopubmedrs1057517255
geneviewrs1057517255
scholarrs1057517255
googlers1057517255
pharmgkbrs1057517255
gwascentralrs1057517255
openSNPrs1057517255
23andMers1057517255
23andMe allrs1057517255
SNPshotrs1057517255
SNPdbers1057517255
MSV3drs1057517255
GWAS Ctlgrs1057517255
Max Magnitude0
ClinVar
Risk rs1057517255(CC;CC)
Alt rs1057517255(CC;CC)
Reference Rs1057517255(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100287474delAinsCC
CLNSRC
CLNACC RCV000411611.1,