rs1052954321, ALPK1

N. diseases: 6
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.
ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS
CUI: C4225670
Disease: ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS
1 0.882 4 112427580 missense variant C/T snv 0.700 1.000 1 2019 2019
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
19 0.882 4 112427580 missense variant C/T snv 0.700 1.000 1 2019 2019
Optic nerve oedema
CUI: C0858613
Disease: Optic nerve oedema
1 0.882 4 112427580 missense variant C/T snv 0.700 1.000 1 2019 2019
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.882 4 112427580 missense variant C/T snv 0.700 1.000 1 2019 2019
Splenomegaly
CUI: C0038002
Disease: Splenomegaly
19 0.882 4 112427580 missense variant C/T snv 0.700 1.000 1 2019 2019
Periodic fever
CUI: C0015974
Disease: Periodic fever
5 0.882 4 112427580 missense variant C/T snv 0.010 1.000 1 2019 2019