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rs267606916

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606916(C;T)
Make rs267606916(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position132696798
GeneNPHP3, NPHP3-ACAD11
is asnp
is mentioned by
dbSNPrs267606916
dbSNP (classic)rs267606916
ClinGenrs267606916
ebirs267606916
HLIrs267606916
Exacrs267606916
Gnomadrs267606916
Varsomers267606916
LitVarrs267606916
Maprs267606916
PheGenIrs267606916
Biobankrs267606916
1000 genomesrs267606916
hgdprs267606916
ensemblrs267606916
geneviewrs267606916
scholarrs267606916
googlers267606916
pharmgkbrs267606916
gwascentralrs267606916
openSNPrs267606916
23andMers267606916
SNPshotrs267606916
SNPdbers267606916
MSV3drs267606916
GWAS Ctlgrs267606916
Max Magnitude0
ClinVar
Risk rs267606916(T;T)
Alt rs267606916(T;T)
Reference Rs267606916(C;C)
Significance Pathogenic
Disease Adolescent nephronophthisis Nephronophthisis
Variation info
Gene NPHP3 NPHP3-ACAD11
CLNDBN Adolescent nephronophthisis Nephronophthisis
Reversed 1
HGVS NC_000003.11:g.132415642G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002759.4, RCV000234832.1,