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rs863225218

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225218(A;A)
Make rs863225218(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position53664869
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs863225218
ebirs863225218
HLIrs863225218
Exacrs863225218
Varsomers863225218
Maprs863225218
PheGenIrs863225218
hapmaprs863225218
1000 genomesrs863225218
hgdprs863225218
ensemblrs863225218
gopubmedrs863225218
geneviewrs863225218
scholarrs863225218
googlers863225218
pharmgkbrs863225218
gwascentralrs863225218
openSNPrs863225218
23andMers863225218
23andMe allrs863225218
SNP Nexus

SNPshotrs863225218
SNPdbers863225218
MSV3drs863225218
GWAS Ctlgrs863225218
Max Magnitude0
ClinVar
Risk rs863225218(A;A)
Alt rs863225218(A;A)
Reference rs863225218(G;G)
Significance Pathogenic
Disease Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN Joubert syndrome 7
Reversed 1
HGVS NC_000016.9:g.53698781C>T
CLNSRC
CLNACC RCV000201573.1,