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.
Abnormal breathing
CUI: C1260922
Disease: Abnormal breathing
2 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Anti-nuclear factor positive
CUI: C0151480
Disease: Anti-nuclear factor positive
3 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Arthralgia
CUI: C0003862
Disease: Arthralgia
27 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Bronchiectasis
CUI: C0006267
Disease: Bronchiectasis
15 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Chest Pain
CUI: C0008031
Disease: Chest Pain
7 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Dyspnea
CUI: C0013404
Disease: Dyspnea
26 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Easy fatigability
CUI: C1837098
Disease: Easy fatigability
5 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Eczema
CUI: C0013595
Disease: Eczema
368 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Failure to thrive in infancy
CUI: C1867873
Disease: Failure to thrive in infancy
12 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
GRAVES DISEASE, SUSCEPTIBILITY TO, 1
1 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
21 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Hypoxemia
CUI: C0700292
Disease: Hypoxemia
7 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Intolerant of heat
CUI: C0231274
Disease: Intolerant of heat
7 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Lactose Intolerance
CUI: C0022951
Disease: Lactose Intolerance
2 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Leukopenia
CUI: C0023530
Disease: Leukopenia
153 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Loss of scalp hair
CUI: C0574769
Disease: Loss of scalp hair
4 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Nephrotic range proteinuria
CUI: C0445118
Disease: Nephrotic range proteinuria
7 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Poor wound healing
CUI: C1851789
Disease: Poor wound healing
3 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Pulmonary arterial hypertension
CUI: C2973725
Disease: Pulmonary arterial hypertension
70 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Short palm
CUI: C1843108
Disease: Short palm
13 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Short philtrum
CUI: C1861324
Disease: Short philtrum
25 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
Telangiectasia, Hereditary Hemorrhagic, Type 1
32 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0