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rs863225203

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTATC;TTATC) 0 common in clinvar
Make rs863225203(-;-)
Make rs863225203(-;TATCT)
Make rs863225203(TATCT;TATCT)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position58457967
GeneKIAA0586
is asnp
is mentioned by
dbSNPrs863225203
ClinGenrs863225203
ebirs863225203
HLIrs863225203
Exacrs863225203
Varsomers863225203
Maprs863225203
PheGenIrs863225203
hapmaprs863225203
1000 genomesrs863225203
hgdprs863225203
ensemblrs863225203
gopubmedrs863225203
geneviewrs863225203
scholarrs863225203
googlers863225203
pharmgkbrs863225203
gwascentralrs863225203
openSNPrs863225203
23andMers863225203
23andMe allrs863225203
SNP Nexus

SNPshotrs863225203
SNPdbers863225203
MSV3drs863225203
GWAS Ctlgrs863225203
Max Magnitude0
ClinVar
Risk rs863225203(-;-)
Alt rs863225203(-;-)
Reference Rs863225203(TTATC;TTATC)
Significance Pathogenic
Disease Joubert syndrome 23
Variation info
Gene KIAA0586
CLNDBN Joubert syndrome 23
Reversed 0
HGVS NC_000014.8:g.58924685_58924689delTATCT
CLNSRC
CLNACC RCV000201780.1,