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rs119456964

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119456964(C;T)
Make rs119456964(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position132684784
GeneNPHP3, TNNI2
is asnp
is mentioned by
dbSNPrs119456964
ebirs119456964
HLIrs119456964
Exacrs119456964
Varsomers119456964
Maprs119456964
PheGenIrs119456964
hapmaprs119456964
1000 genomesrs119456964
hgdprs119456964
ensemblrs119456964
gopubmedrs119456964
geneviewrs119456964
scholarrs119456964
googlers119456964
pharmgkbrs119456964
gwascentralrs119456964
openSNPrs119456964
23andMers119456964
23andMe allrs119456964
SNP Nexus

SNPshotrs119456964
SNPdbers119456964
MSV3drs119456964
GWAS Ctlgrs119456964
Max Magnitude0
OMIM608002
Desc
Variant0007
Relatedalso
ClinVar
Risk rs119456964(T;T)
Alt rs119456964(T;T)
Reference rs119456964(C;C)
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.132403628G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002757.4,