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rs119456960

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119456960(C;C)
Make rs119456960(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position132713165
GeneNPHP3, TNNI2
is asnp
is mentioned by
dbSNPrs119456960
ebirs119456960
HLIrs119456960
Exacrs119456960
Varsomers119456960
Maprs119456960
PheGenIrs119456960
hapmaprs119456960
1000 genomesrs119456960
hgdprs119456960
ensemblrs119456960
gopubmedrs119456960
geneviewrs119456960
scholarrs119456960
googlers119456960
pharmgkbrs119456960
gwascentralrs119456960
openSNPrs119456960
23andMers119456960
23andMe allrs119456960
SNP Nexus

SNPshotrs119456960
SNPdbers119456960
MSV3drs119456960
GWAS Ctlgrs119456960
Max Magnitude0
OMIM608002
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119456960(C;C)
Alt rs119456960(C;C)
Reference rs119456960(G;G)
Significance Pathogenic
Disease Adolescent nephronophthisis
Variation info
Gene NPHP3 NPHP3-ACAD11
CLNDBN Adolescent nephronophthisis
Reversed 1
HGVS NC_000003.11:g.132432009C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002751.3,