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rs587777530

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777530(C;C)
Make rs587777530(C;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position68543723
GeneFAM20A, PRKAR1A
is asnp
is mentioned by
dbSNPrs587777530
ebirs587777530
HLIrs587777530
Exacrs587777530
Varsomers587777530
Maprs587777530
PheGenIrs587777530
hapmaprs587777530
1000 genomesrs587777530
hgdprs587777530
ensemblrs587777530
gopubmedrs587777530
geneviewrs587777530
scholarrs587777530
googlers587777530
pharmgkbrs587777530
gwascentralrs587777530
openSNPrs587777530
23andMers587777530
23andMe allrs587777530
SNP Nexus

SNPshotrs587777530
SNPdbers587777530
MSV3drs587777530
GWAS Ctlgrs587777530
Max Magnitude0
ClinVar
Risk rs587777530(C,T;C,T)
Alt rs587777530(C,T;C,T)
Reference rs587777530(A;A)
Significance Pathogenic
Disease Enamel-renal syndrome
Variation info
Gene PRKAR1A FAM20A
CLNDBN Enamel-renal syndrome
Reversed 1
HGVS NC_000017.10:g.66539864T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000128612.2,