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rs863224913

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224913(-;-)
Make rs863224913(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position21328424
GeneRPGRIP1
is asnp
is mentioned by
dbSNPrs863224913
dbSNP (classic)rs863224913
ClinGenrs863224913
ebirs863224913
HLIrs863224913
Exacrs863224913
Gnomadrs863224913
Varsomers863224913
LitVarrs863224913
Maprs863224913
PheGenIrs863224913
Biobankrs863224913
1000 genomesrs863224913
hgdprs863224913
ensemblrs863224913
geneviewrs863224913
scholarrs863224913
googlers863224913
pharmgkbrs863224913
gwascentralrs863224913
openSNPrs863224913
23andMers863224913
SNPshotrs863224913
SNPdbers863224913
MSV3drs863224913
GWAS Ctlgrs863224913
Max Magnitude0
ClinVar
Risk rs863224913(-;-)
Alt rs863224913(-;-)
Reference Rs863224913(G;G)
Significance Probable-Pathogenic
Disease Cone-rod dystrophy 13
Variation info
Gene RPGRIP1
CLNDBN Cone-rod dystrophy 13
Reversed 0
HGVS NC_000014.8:g.21796583delG
CLNSRC
CLNACC RCV000195884.1,