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rs1230345

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 0
Make rs1230345(A;A)
Make rs1230345(A;C)
Make rs1230345(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position112061110
GeneWISP3
is asnp
is mentioned by
dbSNPrs1230345
ebirs1230345
HLIrs1230345
Exacrs1230345
Varsomers1230345
Maprs1230345
PheGenIrs1230345
hapmaprs1230345
1000 genomesrs1230345
hgdprs1230345
ensemblrs1230345
gopubmedrs1230345
geneviewrs1230345
scholarrs1230345
googlers1230345
pharmgkbrs1230345
gwascentralrs1230345
openSNPrs1230345
23andMers1230345
23andMe allrs1230345
SNP Nexus

SNPshotrs1230345
SNPdbers1230345
MSV3drs1230345
GWAS Ctlgrs1230345
GMAF0.3003
Max Magnitude0
? (A;A) (A;C) (C;C) 28
Venter snp
Source plos
Gene WISP3
allele T
frequency 0.225
sift TOLERATED
HuRef 1103652968863
Disease Association Defects in WISP3 are the cause of progressive pseudorheumatoid arthropathy of childhood (PPAC) (MIM:208230). PPAC is an autosomal recessive disorder characterized by stiffness and swelling of joints, motor weakness and joint contractures. Signs and symptoms of the disease develop typically between three and eight years of age. This progressive disease is a primary disorder of articular cartilage with continued cartilage loss and destructive bone changes with aging.



Neighborrs17073260
Distance10


GET Evidence
WISP3-Q74H
aa_change Gln74His
aa_change_short Q74H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.334542
summary



rs1230345 was associated with schizophrenia in a Illuminia HumanExome chip comparison of n=977 patients and controls.

http://www.ncbi.nlm.nih.gov/pubmed/27028512