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rs779823931

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs779823931(A;A)
Make rs779823931(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position50791749
GeneACPT, LOC105372439
is asnp
is mentioned by
dbSNPrs779823931
dbSNP (classic)rs779823931
ClinGenrs779823931
ebirs779823931
HLIrs779823931
Exacrs779823931
Gnomadrs779823931
Varsomers779823931
LitVarrs779823931
Maprs779823931
PheGenIrs779823931
Biobankrs779823931
1000 genomesrs779823931
hgdprs779823931
ensemblrs779823931
geneviewrs779823931
scholarrs779823931
googlers779823931
pharmgkbrs779823931
gwascentralrs779823931
openSNPrs779823931
23andMers779823931
SNPshotrs779823931
SNPdbers779823931
MSV3drs779823931
GWAS Ctlgrs779823931
Max Magnitude0
ClinVar
Risk rs779823931(A;A)
Alt rs779823931(A;A)
Reference Rs779823931(G;G)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene ACPT
CLNDBN Amelogenesis imperfecta, type IJ
Reversed 0
HGVS NC_000019.9:g.51295006G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000415549.1,