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rs1060499539

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060499539(G;G)
Make rs1060499539(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position70631707
GeneENAM
is asnp
is mentioned by
dbSNPrs1060499539
dbSNP (classic)rs1060499539
ClinGenrs1060499539
ebirs1060499539
HLIrs1060499539
Exacrs1060499539
Gnomadrs1060499539
Varsomers1060499539
LitVarrs1060499539
Maprs1060499539
PheGenIrs1060499539
Biobankrs1060499539
1000 genomesrs1060499539
hgdprs1060499539
ensemblrs1060499539
geneviewrs1060499539
scholarrs1060499539
googlers1060499539
pharmgkbrs1060499539
gwascentralrs1060499539
openSNPrs1060499539
23andMers1060499539
SNPshotrs1060499539
SNPdbers1060499539
MSV3drs1060499539
GWAS Ctlgrs1060499539
Max Magnitude0
ClinVar
Risk rs1060499539(G;G)
Alt rs1060499539(G;G)
Reference Rs1060499539(T;T)
Significance Probable-Pathogenic
Disease Amelogenesis imperfecta - hypoplastic autosomal dominant - local
Variation info
Gene ENAM
CLNDBN Amelogenesis imperfecta - hypoplastic autosomal dominant - local
Reversed 0
HGVS NC_000004.11:g.71497424T>G
CLNSRC
CLNACC RCV000449635.1,