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rs121908109

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908109(A;T)
Make rs121908109(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position70631882
GeneENAM
is asnp
is mentioned by
dbSNPrs121908109
dbSNP (classic)rs121908109
ClinGenrs121908109
ebirs121908109
HLIrs121908109
Exacrs121908109
Gnomadrs121908109
Varsomers121908109
LitVarrs121908109
Maprs121908109
PheGenIrs121908109
Biobankrs121908109
1000 genomesrs121908109
hgdprs121908109
ensemblrs121908109
geneviewrs121908109
scholarrs121908109
googlers121908109
pharmgkbrs121908109
gwascentralrs121908109
openSNPrs121908109
23andMers121908109
SNPshotrs121908109
SNPdbers121908109
MSV3drs121908109
GWAS Ctlgrs121908109
Max Magnitude0
OMIM606585
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908109(T;T)
Alt rs121908109(T;T)
Reference Rs121908109(A;A)
Significance Pathogenic
Disease Amelogenesis imperfecta - hypoplastic autosomal dominant - local
Variation info
Gene ENAM
CLNDBN Amelogenesis imperfecta - hypoplastic autosomal dominant - local
Reversed 0
HGVS NC_000004.11:g.71497599A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004459.3,