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rs587777515

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777515(A;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position102609070
GeneLOC101928477, MMP20
is asnp
is mentioned by
dbSNPrs587777515
dbSNP (classic)rs587777515
ClinGenrs587777515
ebirs587777515
HLIrs587777515
Exacrs587777515
Gnomadrs587777515
Varsomers587777515
LitVarrs587777515
Maprs587777515
PheGenIrs587777515
Biobankrs587777515
1000 genomesrs587777515
hgdprs587777515
ensemblrs587777515
geneviewrs587777515
scholarrs587777515
googlers587777515
pharmgkbrs587777515
gwascentralrs587777515
openSNPrs587777515
23andMers587777515
SNPshotrs587777515
SNPdbers587777515
MSV3drs587777515
GWAS Ctlgrs587777515
Max Magnitude0
ClinVar
Risk Rs587777515(A;A)
Alt Rs587777515(A;A)
Reference Rs587777515(T;T)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene MMP20
CLNDBN Amelogenesis imperfecta, hypomaturation type, IIA2
Reversed 1
HGVS NC_000011.9:g.102479801A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128567.3,