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rs17089782

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs17089782(A;A)
Make rs17089782(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position72835359
GenePIBF1
is asnp
is mentioned by
dbSNPrs17089782
ebirs17089782
HLIrs17089782
Exacrs17089782
Varsomers17089782
Maprs17089782
PheGenIrs17089782
hapmaprs17089782
1000 genomesrs17089782
hgdprs17089782
ensemblrs17089782
gopubmedrs17089782
geneviewrs17089782
scholarrs17089782
googlers17089782
pharmgkbrs17089782
gwascentralrs17089782
openSNPrs17089782
23andMers17089782
23andMe allrs17089782
SNP Nexus

SNPshotrs17089782
SNPdbers17089782
MSV3drs17089782
GWAS Ctlgrs17089782
Max Magnitude0
? (A;A) (A;G) (G;G) 28
ClinVar
Risk rs17089782(A;A)
Alt rs17089782(A;A)
Reference rs17089782(G;G)
Significance Probable-Pathogenic
Disease Joubert syndrome
Variation info
Gene PIBF1
CLNDBN Joubert syndrome
Reversed 0
HGVS NC_000013.10:g.73409497G>A
CLNSRC
CLNACC RCV000201558.1,