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rs1057519277

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519277(C;T)
Make rs1057519277(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position50790783
GeneACPT, LOC105372439
is asnp
is mentioned by
dbSNPrs1057519277
dbSNP (old)rs1057519277
ClinGenrs1057519277
ebirs1057519277
HLIrs1057519277
Exacrs1057519277
Gnomadrs1057519277
Varsomers1057519277
Maprs1057519277
PheGenIrs1057519277
Biobankrs1057519277
1000 genomesrs1057519277
hgdprs1057519277
ensemblrs1057519277
gopubmedrs1057519277
geneviewrs1057519277
scholarrs1057519277
googlers1057519277
pharmgkbrs1057519277
gwascentralrs1057519277
openSNPrs1057519277
23andMers1057519277
23andMe allrs1057519277
SNPshotrs1057519277
SNPdbers1057519277
MSV3drs1057519277
GWAS Ctlgrs1057519277
Max Magnitude0
ClinVar
Risk rs1057519277(T;T)
Alt rs1057519277(T;T)
Reference Rs1057519277(C;C)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene ACPT
CLNDBN Amelogenesis imperfecta, type IJ
Reversed 0
HGVS NC_000019.9:g.51294040C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000415588.1,