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rs767907487

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs767907487(C;C)
Make rs767907487(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position50791734
GeneACPT, LOC105372439
is asnp
is mentioned by
dbSNPrs767907487
dbSNP (classic)rs767907487
ClinGenrs767907487
ebirs767907487
HLIrs767907487
Exacrs767907487
Gnomadrs767907487
Varsomers767907487
LitVarrs767907487
Maprs767907487
PheGenIrs767907487
Biobankrs767907487
1000 genomesrs767907487
hgdprs767907487
ensemblrs767907487
geneviewrs767907487
scholarrs767907487
googlers767907487
pharmgkbrs767907487
gwascentralrs767907487
openSNPrs767907487
23andMers767907487
SNPshotrs767907487
SNPdbers767907487
MSV3drs767907487
GWAS Ctlgrs767907487
Max Magnitude0
ClinVar
Risk rs767907487(C;C)
Alt rs767907487(C;C)
Reference Rs767907487(G;G)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene ACPT
CLNDBN Amelogenesis imperfecta, type IJ
Reversed 0
HGVS NC_000019.9:g.51294991G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000415614.1,