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rs878853329

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGAA;AGAA) 0 common in clinvar
(GAAA;GAAA) 0 common in clinvar
Make rs878853329(-;-)
Make rs878853329(-;GAAA)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position54625480
GeneRP1
is asnp
is mentioned by
dbSNPrs878853329
dbSNP (classic)rs878853329
ClinGenrs878853329
ebirs878853329
HLIrs878853329
Exacrs878853329
Gnomadrs878853329
Varsomers878853329
LitVarrs878853329
Maprs878853329
PheGenIrs878853329
Biobankrs878853329
1000 genomesrs878853329
hgdprs878853329
ensemblrs878853329
geneviewrs878853329
scholarrs878853329
googlers878853329
pharmgkbrs878853329
gwascentralrs878853329
openSNPrs878853329
23andMers878853329
SNPshotrs878853329
SNPdbers878853329
MSV3drs878853329
GWAS Ctlgrs878853329
Max Magnitude0
ClinVar
Risk rs878853329(-;-) Rs878853329(AGAA;AGAA)
Alt rs878853329(-;-) Rs878853329(AGAA;AGAA)
Reference Rs878853329(GAAA;GAAA)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene RP1
CLNDBN Retinal dystrophy
Reversed 0
HGVS NC_000008.10:g.55538040_55538043delGAAA
CLNSRC
CLNACC RCV000225395.1,