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rs546603773

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs546603773(C;T)
Make rs546603773(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position50791780
GeneACPT, LOC105372439
is asnp
is mentioned by
dbSNPrs546603773
dbSNP (classic)rs546603773
ClinGenrs546603773
ebirs546603773
HLIrs546603773
Exacrs546603773
Gnomadrs546603773
Varsomers546603773
LitVarrs546603773
Maprs546603773
PheGenIrs546603773
Biobankrs546603773
1000 genomesrs546603773
hgdprs546603773
ensemblrs546603773
geneviewrs546603773
scholarrs546603773
googlers546603773
pharmgkbrs546603773
gwascentralrs546603773
openSNPrs546603773
23andMers546603773
SNPshotrs546603773
SNPdbers546603773
MSV3drs546603773
GWAS Ctlgrs546603773
Max Magnitude0
ClinVar
Risk rs546603773(A;A) rs546603773(G;G) rs546603773(T;T)
Alt rs546603773(A;A) rs546603773(G;G) rs546603773(T;T)
Reference Rs546603773(C;C)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene ACPT
CLNDBN Amelogenesis imperfecta, type IJ
Reversed 0
HGVS NC_000019.9:g.51295037C>T
CLNSRC
CLNACC RCV000489568.1,