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.
Abnormality of the pinna
CUI: C0857379
Disease: Abnormality of the pinna
9 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
30 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
Congenital absence of ovary
CUI: C0266368
Disease: Congenital absence of ovary
1 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
Dilation of lateral ventricles
CUI: C1856409
Disease: Dilation of lateral ventricles
3 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
Dry skin
CUI: C0151908
Disease: Dry skin
12 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
Erythroid hypoplasia
CUI: C0542035
Disease: Erythroid hypoplasia
1 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
Hemangioma
CUI: C0018916
Disease: Hemangioma
24 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
Intracerebral periventricular calcifications
CUI: C1837246
Disease: Intracerebral periventricular calcifications
1 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
Low-set, posteriorly rotated ears
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
19 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
Orbital separation diminished
CUI: C0424711
Disease: Orbital separation diminished
11 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
Pulmonary arterial hypertension
CUI: C2973725
Disease: Pulmonary arterial hypertension
70 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
19 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
Testicular Hydrocele
CUI: C1720771
Disease: Testicular Hydrocele
5 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
Wide anterior fontanel
CUI: C1866134
Disease: Wide anterior fontanel
5 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0