rs387907264, PFN1

N. diseases: 5
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.
AMYOTROPHIC LATERAL SCLEROSIS 18
CUI: C3553719
Disease: AMYOTROPHIC LATERAL SCLEROSIS 18
4 0.851 0.080 17 4946742 missense variant A/C snv 0.800 1.000 1 2012 2012
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.851 0.080 17 4946742 missense variant A/C snv 0.050 1.000 5 2015 2019
Amyotrophic Lateral Sclerosis, Familial
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
68 0.851 0.080 17 4946742 missense variant A/C snv 0.010 1.000 1 2015 2015
Motor neuron atrophy
CUI: C4024896
Disease: Motor neuron atrophy
21 0.851 0.080 17 4946742 missense variant A/C snv 0.010 1.000 1 2017 2017
Motor symptoms
CUI: C0426980
Disease: Motor symptoms
15 0.851 0.080 17 4946742 missense variant A/C snv 0.010 1.000 1 2019 2019