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rs587777537

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777537(C;T)
Make rs587777537(T;T)
ReferenceGRCh38 38.1/142
Chromosome14
Position92442132
GeneSLC24A4
is asnp
is mentioned by
dbSNPrs587777537
dbSNP (classic)rs587777537
ClinGenrs587777537
ebirs587777537
HLIrs587777537
Exacrs587777537
Gnomadrs587777537
Varsomers587777537
LitVarrs587777537
Maprs587777537
PheGenIrs587777537
Biobankrs587777537
1000 genomesrs587777537
hgdprs587777537
ensemblrs587777537
geneviewrs587777537
scholarrs587777537
googlers587777537
pharmgkbrs587777537
gwascentralrs587777537
openSNPrs587777537
23andMers587777537
SNPshotrs587777537
SNPdbers587777537
MSV3drs587777537
GWAS Ctlgrs587777537
Max Magnitude0
ClinVar
Risk rs587777537(T;T)
Alt rs587777537(T;T)
Reference Rs587777537(C;C)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene SLC24A4
CLNDBN Amelogenesis imperfecta, hypomaturation type IIA5
Reversed 0
HGVS NC_000014.8:g.92908476C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128623.2,