SYNPO, synaptopodin, 11346

N. diseases: 37; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41364946
rs41364946
Entrez Id: 11346
Gene Symbol: SYNPO
SYNPO
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs6579797
rs6579797
Entrez Id: 11346
Gene Symbol: SYNPO
SYNPO
CUI: C0036341
Disease:
Schizophrenia 		0.010 GeneticVariation BEFREE From the gene SYNPO, rs6579797 (MAF = 0.032) shows significant associations with ABF (P = .015) and schizophrenia (P = .040), as well as jointly (P = .0027). 26405221 2016
dbSNP: rs775831849
rs775831849
Entrez Id: 11346
Gene Symbol: SYNPO
SYNPO
CUI: C0002986
Disease:
Fabry Disease 		0.010 GeneticVariation BEFREE She was ultimately diagnosed with FD based on immunohistochemical staining indicating large amounts of accumulated globotriaosylceramide in her podocytes, detection of urinary globotriaosylceramide secretion using high-performance thin-layer chromatography/ immunostaining, and structural modeling of the mutated α-galactosidase A (Pro210Ser). 25295576 2015