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rs869025278

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869025278(A;G)
Make rs869025278(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position3816372
GeneCEP104
is asnp
is mentioned by
dbSNPrs869025278
ebirs869025278
HLIrs869025278
Exacrs869025278
Varsomers869025278
Maprs869025278
PheGenIrs869025278
hapmaprs869025278
1000 genomesrs869025278
hgdprs869025278
ensemblrs869025278
gopubmedrs869025278
geneviewrs869025278
scholarrs869025278
googlers869025278
pharmgkbrs869025278
gwascentralrs869025278
openSNPrs869025278
23andMers869025278
23andMe allrs869025278
SNP Nexus

SNPshotrs869025278
SNPdbers869025278
MSV3drs869025278
GWAS Ctlgrs869025278
Max Magnitude0
ClinVar
Risk rs869025278(G;G)
Alt rs869025278(G;G)
Reference rs869025278(A;A)
Significance Pathogenic
Disease Joubert syndrome 25
Variation info
Gene CEP104
CLNDBN Joubert syndrome 25
Reversed 1
HGVS NC_000001.10:g.3732936T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000207283.1,