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rs535922252

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs535922252(A;G)
Make rs535922252(G;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position21324747
GeneRPGRIP1
is asnp
is mentioned by
dbSNPrs535922252
ebirs535922252
HLIrs535922252
Exacrs535922252
Varsomers535922252
Maprs535922252
PheGenIrs535922252
hapmaprs535922252
1000 genomesrs535922252
hgdprs535922252
ensemblrs535922252
gopubmedrs535922252
geneviewrs535922252
scholarrs535922252
googlers535922252
pharmgkbrs535922252
gwascentralrs535922252
openSNPrs535922252
23andMers535922252
23andMe allrs535922252
SNP Nexus

SNPshotrs535922252
SNPdbers535922252
MSV3drs535922252
GWAS Ctlgrs535922252
Max Magnitude0
ClinVar
Risk rs535922252(G,T;G,T)
Alt rs535922252(G,T;G,T)
Reference rs535922252(A;A)
Significance Pathogenic
Disease Leber congenital amaurosis 6
Variation info
Gene RPGRIP1
CLNDBN Leber congenital amaurosis 6
Reversed 0
HGVS NC_000014.8:g.21792906A>T
CLNSRC ClinVar
CLNACC RCV000144462.1,