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rs869025276

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869025276(C;C)
Make rs869025276(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position3839606
GeneCEP104
is asnp
is mentioned by
dbSNPrs869025276
ebirs869025276
HLIrs869025276
Exacrs869025276
Varsomers869025276
Maprs869025276
PheGenIrs869025276
hapmaprs869025276
1000 genomesrs869025276
hgdprs869025276
ensemblrs869025276
gopubmedrs869025276
geneviewrs869025276
scholarrs869025276
googlers869025276
pharmgkbrs869025276
gwascentralrs869025276
openSNPrs869025276
23andMers869025276
23andMe allrs869025276
SNP Nexus

SNPshotrs869025276
SNPdbers869025276
MSV3drs869025276
GWAS Ctlgrs869025276
Max Magnitude0
ClinVar
Risk rs869025276(C;C)
Alt rs869025276(C;C)
Reference rs869025276(T;T)
Significance Pathogenic
Disease Joubert syndrome 25
Variation info
Gene CEP104
CLNDBN Joubert syndrome 25
Reversed 1
HGVS NC_000001.10:g.3756170A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000207253.1,