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rs368138001

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs368138001(A;A)
Make rs368138001(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position132684751
GeneNPHP3
is asnp
is mentioned by
dbSNPrs368138001
ebirs368138001
HLIrs368138001
Exacrs368138001
Varsomers368138001
Maprs368138001
PheGenIrs368138001
hapmaprs368138001
1000 genomesrs368138001
hgdprs368138001
ensemblrs368138001
gopubmedrs368138001
geneviewrs368138001
scholarrs368138001
googlers368138001
pharmgkbrs368138001
gwascentralrs368138001
openSNPrs368138001
23andMers368138001
23andMe allrs368138001
SNP Nexus

SNPshotrs368138001
SNPdbers368138001
MSV3drs368138001
GWAS Ctlgrs368138001
Max Magnitude0
ClinVar
Risk rs368138001(A;A)
Alt rs368138001(A;A)
Reference rs368138001(G;G)
Significance Pathogenic
Disease not provided Renal-hepatic-pancreatic dysplasia Adolescent nephronophthisis
Variation info
Gene NPHP3 NPHP3-ACAD11
CLNDBN not provided Renal-hepatic-pancreatic dysplasia Adolescent nephronophthisis
Reversed 0
HGVS NC_000003.11:g.132403595G>A
CLNSRC HGMD
CLNACC RCV000082669.3, RCV000176505.1, RCV000176506.1,