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rs751527253

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs751527253(-;-)
Make rs751527253(-;CT)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position132689264
GeneNPHP3, NPHP3-ACAD11
is asnp
is mentioned by
dbSNPrs751527253
dbSNP (old)rs751527253
ClinGenrs751527253
ebirs751527253
HLIrs751527253
Exacrs751527253
Varsomers751527253
Maprs751527253
PheGenIrs751527253
Biobankrs751527253
1000 genomesrs751527253
hgdprs751527253
ensemblrs751527253
gopubmedrs751527253
geneviewrs751527253
scholarrs751527253
googlers751527253
pharmgkbrs751527253
gwascentralrs751527253
openSNPrs751527253
23andMers751527253
23andMe allrs751527253
SNP Nexus

SNPshotrs751527253
SNPdbers751527253
MSV3drs751527253
GWAS Ctlgrs751527253
Max Magnitude0
ClinVar
Risk rs751527253(-;-)
Alt rs751527253(-;-)
Reference Rs751527253(CT;CT)
Significance Pathogenic
Disease Meckel syndrome type 7 Renal-hepatic-pancreatic dysplasia Nephronophthisis Polycystic kidney dysplasia not provided
Variation info
Gene NPHP3 NPHP3-ACAD11
CLNDBN Meckel syndrome type 7 Renal-hepatic-pancreatic dysplasia Nephronophthisis Polycystic kidney dysplasia not provided
Reversed 0
HGVS NC_000003.11:g.132408108_132408109delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000002753.5, RCV000055628.4, RCV000205615.2, RCV000256425.1, RCV000355185.1,