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rs119456959

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(GAG;GAG) 0 common in clinvar
(I;I) 0 common genotype
Make rs119456959(-;-)
Make rs119456959(-;A)
ReferenceGRCh38 38.1/141
Chromosome3
Position132682077
GeneNPHP3, NPHP3-ACAD11
is asnp
is mentioned by
dbSNPrs119456959
dbSNP (classic)rs119456959
ClinGenrs119456959
ebirs119456959
HLIrs119456959
Exacrs119456959
Gnomadrs119456959
Varsomers119456959
LitVarrs119456959
Maprs119456959
PheGenIrs119456959
Biobankrs119456959
1000 genomesrs119456959
hgdprs119456959
ensemblrs119456959
geneviewrs119456959
scholarrs119456959
googlers119456959
pharmgkbrs119456959
gwascentralrs119456959
openSNPrs119456959
23andMers119456959
SNPshotrs119456959
SNPdbers119456959
MSV3drs119456959
GWAS Ctlgrs119456959
Max Magnitude0
OMIM608002
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119456959(-;-)
Alt rs119456959(-;-)
Reference Rs119456959(GAG;GAG)
Significance Pathogenic
Disease Adolescent nephronophthisis Nephronophthisis
Variation info
Gene NPHP3 NPHP3-ACAD11
CLNDBN Adolescent nephronophthisis Nephronophthisis
Reversed 1
HGVS NC_000003.11:g.132400921_132400923delCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002750.2, RCV000234820.1,