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rs119456963

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119456963(A;A)
Make rs119456963(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position132688857
GeneNPHP3, TNNI2
is asnp
is mentioned by
dbSNPrs119456963
ebirs119456963
HLIrs119456963
Exacrs119456963
Varsomers119456963
Maprs119456963
PheGenIrs119456963
hapmaprs119456963
1000 genomesrs119456963
hgdprs119456963
ensemblrs119456963
gopubmedrs119456963
geneviewrs119456963
scholarrs119456963
googlers119456963
pharmgkbrs119456963
gwascentralrs119456963
openSNPrs119456963
23andMers119456963
23andMe allrs119456963
SNP Nexus

SNPshotrs119456963
SNPdbers119456963
MSV3drs119456963
GWAS Ctlgrs119456963
Max Magnitude0
OMIM608002
Desc
Variant0006
Relatedalso
ClinVar
Risk rs119456963(A;A)
Alt rs119456963(A;A)
Reference rs119456963(G;G)
Significance Pathogenic
Disease Renal-hepatic-pancreatic dysplasia
Variation info
Gene NPHP3 NPHP3-ACAD11
CLNDBN Renal-hepatic-pancreatic dysplasia
Reversed 1
HGVS NC_000003.11:g.132407701C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002756.4,