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.
Amenorrhea
CUI: C0002453
Disease: Amenorrhea
2 0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06 0.700 0
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06 0.700 0
PERRAULT SYNDROME 5
CUI: C4015307
Disease: PERRAULT SYNDROME 5
6 0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06 0.700 0
Sensory neuropathy
CUI: C0151313
Disease: Sensory neuropathy
15 0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06 0.700 0