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rs863225216

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225216(-;-)
Make rs863225216(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position53652966
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs863225216
dbSNP (classic)rs863225216
ClinGenrs863225216
ebirs863225216
HLIrs863225216
Exacrs863225216
Gnomadrs863225216
Varsomers863225216
LitVarrs863225216
Maprs863225216
PheGenIrs863225216
Biobankrs863225216
1000 genomesrs863225216
hgdprs863225216
ensemblrs863225216
geneviewrs863225216
scholarrs863225216
googlers863225216
pharmgkbrs863225216
gwascentralrs863225216
openSNPrs863225216
23andMers863225216
SNPshotrs863225216
SNPdbers863225216
MSV3drs863225216
GWAS Ctlgrs863225216
Max Magnitude0
ClinVar
Risk rs863225216(-;-)
Alt rs863225216(-;-)
Reference Rs863225216(A;A)
Significance Pathogenic
Disease Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN Joubert syndrome 7
Reversed 1
HGVS NC_000016.9:g.53686878delT
CLNSRC
CLNACC RCV000201652.1,