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rs758558609

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs758558609(-;-)
Make rs758558609(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position132722083
GeneNPHP3, NPHP3-ACAD11, NPHP3-AS1
is asnp
is mentioned by
dbSNPrs758558609
dbSNP (classic)rs758558609
ClinGenrs758558609
ebirs758558609
HLIrs758558609
Exacrs758558609
Gnomadrs758558609
Varsomers758558609
LitVarrs758558609
Maprs758558609
PheGenIrs758558609
Biobankrs758558609
1000 genomesrs758558609
hgdprs758558609
ensemblrs758558609
geneviewrs758558609
scholarrs758558609
googlers758558609
pharmgkbrs758558609
gwascentralrs758558609
openSNPrs758558609
23andMers758558609
SNPshotrs758558609
SNPdbers758558609
MSV3drs758558609
GWAS Ctlgrs758558609
Max Magnitude0
ClinVar
Risk rs758558609(-;-)
Alt rs758558609(-;-)
Reference Rs758558609(G;G)
Significance Pathogenic
Disease Adolescent nephronophthisis Renal-hepatic-pancreatic dysplasia
Variation info
Gene NPHP3-AS1 NPHP3 NPHP3-ACAD11
CLNDBN Adolescent nephronophthisis Renal-hepatic-pancreatic dysplasia
Reversed 0
HGVS NC_000003.11:g.132440927delG
CLNSRC
CLNACC RCV000173578.1, RCV000173579.1,