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rs182135982

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs182135982(C;T)
Make rs182135982(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position132699988
GeneNPHP3, NPHP3-ACAD11
is asnp
is mentioned by
dbSNPrs182135982
ebirs182135982
HLIrs182135982
Exacrs182135982
Varsomers182135982
Maprs182135982
PheGenIrs182135982
hapmaprs182135982
1000 genomesrs182135982
hgdprs182135982
ensemblrs182135982
gopubmedrs182135982
geneviewrs182135982
scholarrs182135982
googlers182135982
pharmgkbrs182135982
gwascentralrs182135982
openSNPrs182135982
23andMers182135982
23andMe allrs182135982
SNP Nexus

SNPshotrs182135982
SNPdbers182135982
MSV3drs182135982
GWAS Ctlgrs182135982
Max Magnitude0
ClinVar
Risk rs182135982(A,T;A,T)
Alt rs182135982(A,T;A,T)
Reference rs182135982(C;C)
Significance Pathogenic
Disease Nephronophthisis
Variation info
Gene NPHP3 NPHP3-ACAD11
CLNDBN Nephronophthisis
Reversed 0
HGVS NC_000003.11:g.132418832C>T
CLNSRC
CLNACC RCV000196484.1,