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rs863225215

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225215(A;A)
Make rs863225215(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position53646004
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs863225215
ebirs863225215
HLIrs863225215
Exacrs863225215
Varsomers863225215
Maprs863225215
PheGenIrs863225215
hapmaprs863225215
1000 genomesrs863225215
hgdprs863225215
ensemblrs863225215
gopubmedrs863225215
geneviewrs863225215
scholarrs863225215
googlers863225215
pharmgkbrs863225215
gwascentralrs863225215
openSNPrs863225215
23andMers863225215
23andMe allrs863225215
SNP Nexus

SNPshotrs863225215
SNPdbers863225215
MSV3drs863225215
GWAS Ctlgrs863225215
Max Magnitude0
ClinVar
Risk rs863225215(A;A)
Alt rs863225215(A;A)
Reference rs863225215(G;G)
Significance Pathogenic
Disease Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN Joubert syndrome 7
Reversed 1
HGVS NC_000016.9:g.53679916C>T
CLNSRC
CLNACC RCV000201526.1,