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rs1060499766

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060499766(G;G)
Make rs1060499766(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position77306344
GenePOMT2
is asnp
is mentioned by
dbSNPrs1060499766
dbSNP (classic)rs1060499766
ClinGenrs1060499766
ebirs1060499766
HLIrs1060499766
Exacrs1060499766
Gnomadrs1060499766
Varsomers1060499766
LitVarrs1060499766
Maprs1060499766
PheGenIrs1060499766
Biobankrs1060499766
1000 genomesrs1060499766
hgdprs1060499766
ensemblrs1060499766
geneviewrs1060499766
scholarrs1060499766
googlers1060499766
pharmgkbrs1060499766
gwascentralrs1060499766
openSNPrs1060499766
23andMers1060499766
SNPshotrs1060499766
SNPdbers1060499766
MSV3drs1060499766
GWAS Ctlgrs1060499766
Max Magnitude0
ClinVar
Risk rs1060499766(G;G)
Alt rs1060499766(G;G)
Reference Rs1060499766(T;T)
Significance Probable-Pathogenic
Disease Abnormality of brain morphology
Variation info
Gene POMT2
CLNDBN Abnormality of brain morphology
Reversed 1
HGVS NC_000014.8:g.77772687A>C
CLNSRC
CLNACC RCV000454201.1,