rs796051881, PEX5

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Asthma
CUI: C0004096
Disease: Asthma
1536 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
Chondrodysplasia Punctata, Rhizomelic
1 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
1 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 0