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rs1057518764

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518764(-;G)
Make rs1057518764(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position49991806
GeneDLX3
is asnp
is mentioned by
dbSNPrs1057518764
dbSNP (old)rs1057518764
ClinGenrs1057518764
ebirs1057518764
HLIrs1057518764
Exacrs1057518764
Gnomadrs1057518764
Varsomers1057518764
Maprs1057518764
PheGenIrs1057518764
Biobankrs1057518764
1000 genomesrs1057518764
hgdprs1057518764
ensemblrs1057518764
gopubmedrs1057518764
geneviewrs1057518764
scholarrs1057518764
googlers1057518764
pharmgkbrs1057518764
gwascentralrs1057518764
openSNPrs1057518764
23andMers1057518764
23andMe allrs1057518764
SNPshotrs1057518764
SNPdbers1057518764
MSV3drs1057518764
GWAS Ctlgrs1057518764
Max Magnitude0
ClinVar
Risk rs1057518764(G;G)
Alt rs1057518764(G;G)
Reference Rs1057518764(-;-)
Significance Probable-Pathogenic
Disease Amelogenesis imperfecta Peripheral pulmonary artery stenosis
Variation info
Gene DLX3
CLNDBN Amelogenesis imperfecta Peripheral pulmonary artery stenosis
Reversed 1
HGVS NC_000017.10:g.48069171dupC
CLNSRC
CLNACC RCV000415464.1,