Have questions? Visit https://www.reddit.com/r/SNPedia

rs863225219

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225219(G;T)
Make rs863225219(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position53610966
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs863225219
ebirs863225219
HLIrs863225219
Exacrs863225219
Varsomers863225219
Maprs863225219
PheGenIrs863225219
hapmaprs863225219
1000 genomesrs863225219
hgdprs863225219
ensemblrs863225219
gopubmedrs863225219
geneviewrs863225219
scholarrs863225219
googlers863225219
pharmgkbrs863225219
gwascentralrs863225219
openSNPrs863225219
23andMers863225219
23andMe allrs863225219
SNP Nexus

SNPshotrs863225219
SNPdbers863225219
MSV3drs863225219
GWAS Ctlgrs863225219
Max Magnitude0
ClinVar
Risk rs863225219(T;T)
Alt rs863225219(T;T)
Reference rs863225219(G;G)
Significance Pathogenic
Disease Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN Joubert syndrome 7
Reversed 1
HGVS NC_000016.9:g.53644878C>A
CLNSRC
CLNACC RCV000201765.1,