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rs398124546

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398124546(C;C)
Make rs398124546(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position132692760
GeneNPHP3
is asnp
is mentioned by
dbSNPrs398124546
ebirs398124546
HLIrs398124546
Exacrs398124546
Varsomers398124546
Maprs398124546
PheGenIrs398124546
hapmaprs398124546
1000 genomesrs398124546
hgdprs398124546
ensemblrs398124546
gopubmedrs398124546
geneviewrs398124546
scholarrs398124546
googlers398124546
pharmgkbrs398124546
gwascentralrs398124546
openSNPrs398124546
23andMers398124546
23andMe allrs398124546
SNP Nexus

SNPshotrs398124546
SNPdbers398124546
MSV3drs398124546
GWAS Ctlgrs398124546
Max Magnitude0
ClinVar
Risk rs398124546(C;C)
Alt rs398124546(C;C)
Reference rs398124546(T;T)
Significance Probable-Pathogenic
Disease not provided Renal-hepatic-pancreatic dysplasia Adolescent nephronophthisis
Variation info
Gene NPHP3 NPHP3-ACAD11
CLNDBN not provided Renal-hepatic-pancreatic dysplasia Adolescent nephronophthisis
Reversed 1
HGVS NC_000003.11:g.132411604A>G
CLNSRC ClinVar Emory University
CLNACC RCV000082664.3, RCV000175246.1, RCV000175247.1,