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rs587776913

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(GAGCC;GAGCC) 0 common in clinvar
(GGCTC;GGCTC) 0 common in clinvar
(GGCTCC;GGCTCC) 0 common in clinvar
(I;I) 0 common genotype
Make rs587776913(-;-)
Make rs587776913(-;GAGCC)
ReferenceGRCh38 38.1/142
Chromosome17
Position68540889
GeneFAM20A, PRKAR1A
is asnp
is mentioned by
dbSNPrs587776913
dbSNP (classic)rs587776913
ClinGenrs587776913
ebirs587776913
HLIrs587776913
Exacrs587776913
Gnomadrs587776913
Varsomers587776913
LitVarrs587776913
Maprs587776913
PheGenIrs587776913
Biobankrs587776913
1000 genomesrs587776913
hgdprs587776913
ensemblrs587776913
geneviewrs587776913
scholarrs587776913
googlers587776913
pharmgkbrs587776913
gwascentralrs587776913
openSNPrs587776913
23andMers587776913
SNPshotrs587776913
SNPdbers587776913
MSV3drs587776913
GWAS Ctlgrs587776913
Max Magnitude0
ClinVar
Risk Rs587776913(GAGCC;GAGCC) rs587776913(-;-)
Alt Rs587776913(GAGCC;GAGCC) rs587776913(-;-)
Reference Rs587776913(GGCTC;GGCTC)
Significance Pathogenic
Disease Enamel-renal syndrome
Variation info
Gene PRKAR1A FAM20A
CLNDBN Enamel-renal syndrome
Reversed 1
HGVS NC_000017.10:g.66537030_66537034delGAGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000029152.3,