Have questions? Visit https://www.reddit.com/r/SNPedia

rs119456962

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119456962(C;T)
Make rs119456962(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position132700348
GeneNPHP3, TNNI2
is asnp
is mentioned by
dbSNPrs119456962
ebirs119456962
HLIrs119456962
Exacrs119456962
Varsomers119456962
Maprs119456962
PheGenIrs119456962
hapmaprs119456962
1000 genomesrs119456962
hgdprs119456962
ensemblrs119456962
gopubmedrs119456962
geneviewrs119456962
scholarrs119456962
googlers119456962
pharmgkbrs119456962
gwascentralrs119456962
openSNPrs119456962
23andMers119456962
23andMe allrs119456962
SNP Nexus

SNPshotrs119456962
SNPdbers119456962
MSV3drs119456962
GWAS Ctlgrs119456962
Max Magnitude0
OMIM608002
Desc
Variant0005
Relatedalso
ClinVar
Risk rs119456962(T;T)
Alt rs119456962(T;T)
Reference rs119456962(C;C)
Significance Pathogenic
Disease Meckel syndrome type 7 not provided Renal-hepatic-pancreatic dysplasia Adolescent nephronophthisis
Variation info
Gene NPHP3 NPHP3-ACAD11
CLNDBN Meckel syndrome type 7 not provided Renal-hepatic-pancreatic dysplasia Adolescent nephronophthisis
Reversed 1
HGVS NC_000003.11:g.132419192G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002755.3, RCV000082662.3, RCV000174179.1, RCV000174180.1,