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rs202073531

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs202073531(C;T)
Make rs202073531(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position50791683
GeneACPT, LOC105372439
is asnp
is mentioned by
dbSNPrs202073531
dbSNP (old)rs202073531
ClinGenrs202073531
ebirs202073531
HLIrs202073531
Exacrs202073531
Gnomadrs202073531
Varsomers202073531
Maprs202073531
PheGenIrs202073531
Biobankrs202073531
1000 genomesrs202073531
hgdprs202073531
ensemblrs202073531
gopubmedrs202073531
geneviewrs202073531
scholarrs202073531
googlers202073531
pharmgkbrs202073531
gwascentralrs202073531
openSNPrs202073531
23andMers202073531
23andMe allrs202073531
SNPshotrs202073531
SNPdbers202073531
MSV3drs202073531
GWAS Ctlgrs202073531
Max Magnitude0
ClinVar
Risk rs202073531(T;T)
Alt rs202073531(T;T)
Reference Rs202073531(C;C)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene ACPT
CLNDBN Amelogenesis imperfecta, type IJ
Reversed 0
HGVS NC_000019.9:g.51294940C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000415543.1,