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rs587777535

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777535(C;T)
Make rs587777535(T;T)
ReferenceGRCh38 38.1/142
Chromosome14
Position92454034
GeneSLC24A4
is asnp
is mentioned by
dbSNPrs587777535
dbSNP (classic)rs587777535
ClinGenrs587777535
ebirs587777535
HLIrs587777535
Exacrs587777535
Gnomadrs587777535
Varsomers587777535
LitVarrs587777535
Maprs587777535
PheGenIrs587777535
Biobankrs587777535
1000 genomesrs587777535
hgdprs587777535
ensemblrs587777535
geneviewrs587777535
scholarrs587777535
googlers587777535
pharmgkbrs587777535
gwascentralrs587777535
openSNPrs587777535
23andMers587777535
SNPshotrs587777535
SNPdbers587777535
MSV3drs587777535
GWAS Ctlgrs587777535
Max Magnitude0
ClinVar
Risk rs587777535(T;T)
Alt rs587777535(T;T)
Reference Rs587777535(C;C)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene SLC24A4
CLNDBN Amelogenesis imperfecta, hypomaturation type IIA5
Reversed 0
HGVS NC_000014.8:g.92920378C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128621.2,