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rs587777516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777516(C;T)
Make rs587777516(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position102625218
GeneLOC101928477, MMP20
is asnp
is mentioned by
dbSNPrs587777516
dbSNP (classic)rs587777516
ClinGenrs587777516
ebirs587777516
HLIrs587777516
Exacrs587777516
Gnomadrs587777516
Varsomers587777516
LitVarrs587777516
Maprs587777516
PheGenIrs587777516
Biobankrs587777516
1000 genomesrs587777516
hgdprs587777516
ensemblrs587777516
geneviewrs587777516
scholarrs587777516
googlers587777516
pharmgkbrs587777516
gwascentralrs587777516
openSNPrs587777516
23andMers587777516
SNPshotrs587777516
SNPdbers587777516
MSV3drs587777516
GWAS Ctlgrs587777516
Max Magnitude0
ClinVar
Risk rs587777516(G;G) rs587777516(T;T)
Alt rs587777516(G;G) rs587777516(T;T)
Reference Rs587777516(C;C)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene MMP20
CLNDBN Amelogenesis imperfecta, hypomaturation type, IIA2
Reversed 0
HGVS NC_000011.9:g.102495949C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128568.4,