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rs1060499747

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060499747(A;G)
Make rs1060499747(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position67128716
GeneHELZ
is asnp
is mentioned by
dbSNPrs1060499747
dbSNP (classic)rs1060499747
ClinGenrs1060499747
ebirs1060499747
HLIrs1060499747
Exacrs1060499747
Gnomadrs1060499747
Varsomers1060499747
LitVarrs1060499747
Maprs1060499747
PheGenIrs1060499747
Biobankrs1060499747
1000 genomesrs1060499747
hgdprs1060499747
ensemblrs1060499747
geneviewrs1060499747
scholarrs1060499747
googlers1060499747
pharmgkbrs1060499747
gwascentralrs1060499747
openSNPrs1060499747
23andMers1060499747
SNPshotrs1060499747
SNPdbers1060499747
MSV3drs1060499747
GWAS Ctlgrs1060499747
Max Magnitude0
ClinVar
Risk rs1060499747(G;G)
Alt rs1060499747(G;G)
Reference Rs1060499747(A;A)
Significance Probable-Pathogenic
Disease Abnormality of brain morphology
Variation info
Gene HELZ
CLNDBN Abnormality of brain morphology
Reversed 1
HGVS NC_000017.10:g.65124832T>C
CLNSRC
CLNACC RCV000454348.1,