Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1550870
rs1550870
Entrez Id: 84867
Gene Symbol: PTPN5
PTPN5
CUI: C0027092
Disease:
Myopia
0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs56234898
rs56234898
Entrez Id: 84867
Gene Symbol: PTPN5
PTPN5
CUI: C1854310
Disease:
Hypotrichosis simplex
0.010 GeneticVariation BEFREE Of 2,146 SNPs tested, a rare missense variant in the PTPN5 gene (rs56234898; minor allele frequency 1.5%) was significantly associated with decreased severity of post-burn HTS (P = 1.3×10-6). 26872063 2016
dbSNP: rs4075664
rs4075664
Entrez Id: 84867
Gene Symbol: PTPN5
PTPN5
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE In the SZ study, we found a nominal association in the whole sample between rs4075664 and SZ. 22555153 2012
dbSNP: rs4757710
rs4757710
Entrez Id: 84867
Gene Symbol: PTPN5
PTPN5
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE Male patients with SZ showed a more significant association for three SNPs (rs4075664, rs2278732, and rs4757710). 22555153 2012