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rs863225217

From SNPedia

Orientationminus
Make rs863225217(-;-)
Make rs863225217(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position53664981
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs863225217
ebirs863225217
HLIrs863225217
Exacrs863225217
Varsomers863225217
Maprs863225217
PheGenIrs863225217
hapmaprs863225217
1000 genomesrs863225217
hgdprs863225217
ensemblrs863225217
gopubmedrs863225217
geneviewrs863225217
scholarrs863225217
googlers863225217
pharmgkbrs863225217
gwascentralrs863225217
openSNPrs863225217
23andMers863225217
23andMe allrs863225217
SNP Nexus

SNPshotrs863225217
SNPdbers863225217
MSV3drs863225217
GWAS Ctlgrs863225217
Max Magnitude
ClinVar
Risk rs863225217(;)
Alt rs863225217(;)
Reference rs863225217(T;T)
Significance Pathogenic
Disease Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN Joubert syndrome 7
Reversed 1
HGVS NC_000016.9:g.53698893delA
CLNSRC
CLNACC RCV000201745.1,