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rs119456961

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119456961(G;T)
Make rs119456961(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position132704341
GeneNPHP3, TNNI2
is asnp
is mentioned by
dbSNPrs119456961
ebirs119456961
HLIrs119456961
Exacrs119456961
Varsomers119456961
Maprs119456961
PheGenIrs119456961
hapmaprs119456961
1000 genomesrs119456961
hgdprs119456961
ensemblrs119456961
gopubmedrs119456961
geneviewrs119456961
scholarrs119456961
googlers119456961
pharmgkbrs119456961
gwascentralrs119456961
openSNPrs119456961
23andMers119456961
23andMe allrs119456961
SNP Nexus

SNPshotrs119456961
SNPdbers119456961
MSV3drs119456961
GWAS Ctlgrs119456961
Max Magnitude0
OMIM608002
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119456961(T;T)
Alt rs119456961(T;T)
Reference rs119456961(G;G)
Significance Pathogenic
Disease Adolescent nephronophthisis
Variation info
Gene NPHP3 NPHP3-ACAD11
CLNDBN Adolescent nephronophthisis
Reversed 1
HGVS NC_000003.11:g.132423185C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002752.3,