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rs387907309

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907309(A;C)
Make rs387907309(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position117338618
GeneCEP164
is asnp
is mentioned by
dbSNPrs387907309
dbSNP (classic)rs387907309
ClinGenrs387907309
ebirs387907309
HLIrs387907309
Exacrs387907309
Gnomadrs387907309
Varsomers387907309
LitVarrs387907309
Maprs387907309
PheGenIrs387907309
Biobankrs387907309
1000 genomesrs387907309
hgdprs387907309
ensemblrs387907309
geneviewrs387907309
scholarrs387907309
googlers387907309
pharmgkbrs387907309
gwascentralrs387907309
openSNPrs387907309
23andMers387907309
SNPshotrs387907309
SNPdbers387907309
MSV3drs387907309
GWAS Ctlgrs387907309
Max Magnitude0
ClinVar
Risk rs387907309(C;C)
Alt rs387907309(C;C)
Reference Rs387907309(A;A)
Significance Pathogenic
Disease Nephronophthisis 15
Variation info
Gene CEP164
CLNDBN Nephronophthisis 15
Reversed 0
HGVS NC_000011.9:g.117209334A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030834.3,