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rs61751266

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs61751266(-;-)
Make rs61751266(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position21312458
GeneRPGRIP1
is asnp
is mentioned by
dbSNPrs61751266
dbSNP (classic)rs61751266
ClinGenrs61751266
ebirs61751266
HLIrs61751266
Exacrs61751266
Gnomadrs61751266
Varsomers61751266
LitVarrs61751266
Maprs61751266
PheGenIrs61751266
Biobankrs61751266
1000 genomesrs61751266
hgdprs61751266
ensemblrs61751266
geneviewrs61751266
scholarrs61751266
googlers61751266
pharmgkbrs61751266
gwascentralrs61751266
openSNPrs61751266
23andMers61751266
SNPshotrs61751266
SNPdbers61751266
MSV3drs61751266
GWAS Ctlgrs61751266
Max Magnitude0
ClinVar
Risk rs61751266(-;-)
Alt rs61751266(-;-)
Reference Rs61751266(A;A)
Significance Pathogenic
Disease not provided Leber congenital amaurosis 6
Variation info
Gene RPGRIP1
CLNDBN not provided Leber congenital amaurosis 6
Reversed 0
HGVS NC_000014.8:g.21780617delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000086238.1, RCV000171128.2,