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rs33958626

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs33958626(A;A)
Make rs33958626(A;C)
ReferenceGRCh38 38.1/142
Chromosome2
Position110201449
GeneNPHP1
is asnp
is mentioned by
dbSNPrs33958626
ebirs33958626
HLIrs33958626
Exacrs33958626
Varsomers33958626
Maprs33958626
PheGenIrs33958626
hapmaprs33958626
1000 genomesrs33958626
hgdprs33958626
ensemblrs33958626
gopubmedrs33958626
geneviewrs33958626
scholarrs33958626
googlers33958626
pharmgkbrs33958626
gwascentralrs33958626
openSNPrs33958626
23andMers33958626
23andMe allrs33958626
SNP Nexus

SNPshotrs33958626
SNPdbers33958626
MSV3drs33958626
GWAS Ctlgrs33958626
GMAF0.0202
Max Magnitude0
Venter snp
Source plos
Gene NPHP1
allele T
frequency
sift
HuRef 1103658182907
Disease Association Defects in NPHP1 are the cause of Joubert syndrome 4 (JBTS4) (MIM:609583). Joubert syndrome is an autosomal recessive multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (the ""molar tooth sign"" on axial magnetic resonance imaging), mental retardation, hypotonia, irregular breathing pattern, and eye-movement abnormalities. Some individuals have retinal dystrophy and/or progressive renal failure characterized by nephronophthisis.



GET Evidence
NPHP1-P39T
aa_change Pro39Thr
aa_change_short P39T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0272355
summary



ClinVar
Risk rs33958626(A;A)
Alt rs33958626(A;A)
Reference rs33958626(C;C)
Significance Other
Disease not specified
Variation info
Gene NPHP1
CLNDBN not specified
Reversed 1
HGVS NC_000002.11:g.110959026G>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000117829.6,