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rs863225214

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225214(-;-)
Make rs863225214(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position72917105
GenePIBF1
is asnp
is mentioned by
dbSNPrs863225214
ClinGenrs863225214
ebirs863225214
HLIrs863225214
Exacrs863225214
Varsomers863225214
Maprs863225214
PheGenIrs863225214
hapmaprs863225214
1000 genomesrs863225214
hgdprs863225214
ensemblrs863225214
gopubmedrs863225214
geneviewrs863225214
scholarrs863225214
googlers863225214
pharmgkbrs863225214
gwascentralrs863225214
openSNPrs863225214
23andMers863225214
23andMe allrs863225214
SNP Nexus

SNPshotrs863225214
SNPdbers863225214
MSV3drs863225214
GWAS Ctlgrs863225214
Max Magnitude0
ClinVar
Risk rs863225214(-;-)
Alt rs863225214(-;-)
Reference Rs863225214(C;C)
Significance Probable-Pathogenic
Disease Joubert syndrome
Variation info
Gene PIBF1
CLNDBN Joubert syndrome
Reversed 0
HGVS NC_000013.10:g.73491243delC
CLNSRC
CLNACC RCV000201708.1,