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rs786204826

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204826(A;G)
Make rs786204826(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position102609943
GeneLOC101928477, MMP20
is asnp
is mentioned by
dbSNPrs786204826
dbSNP (classic)rs786204826
ClinGenrs786204826
ebirs786204826
HLIrs786204826
Exacrs786204826
Gnomadrs786204826
Varsomers786204826
LitVarrs786204826
Maprs786204826
PheGenIrs786204826
Biobankrs786204826
1000 genomesrs786204826
hgdprs786204826
ensemblrs786204826
geneviewrs786204826
scholarrs786204826
googlers786204826
pharmgkbrs786204826
gwascentralrs786204826
openSNPrs786204826
23andMers786204826
SNPshotrs786204826
SNPdbers786204826
MSV3drs786204826
GWAS Ctlgrs786204826
Max Magnitude0
ClinVar
Risk rs786204826(G;G)
Alt rs786204826(G;G)
Reference Rs786204826(A;A)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene MMP20
CLNDBN Amelogenesis imperfecta, hypomaturation type, IIA2
Reversed 1
HGVS NC_000011.9:g.102480674T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000169729.3,