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.
Atresia of the external auditory canal
CUI: C1866190
Disease: Atresia of the external auditory canal
3 0.807 0.120 6 10404631 missense variant A/T snv 0.700 1.000 1 2015 2015
Branchial anomaly
CUI: C1862066
Disease: Branchial anomaly
3 0.807 0.120 6 10404631 missense variant A/T snv 0.700 1.000 1 2015 2015
Branchio-Oculo-Facial Syndrome
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
16 0.807 0.120 6 10404631 missense variant A/T snv 0.700 1.000 1 2015 2015
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
282 0.807 0.120 6 10404631 missense variant A/T snv 0.700 1.000 1 2015 2015
Coloboma of optic disc
CUI: C0155299
Disease: Coloboma of optic disc
14 0.807 0.120 6 10404631 missense variant A/T snv 0.700 1.000 1 2015 2015
Low posterior hairline
CUI: C1855728
Disease: Low posterior hairline
11 0.807 0.120 6 10404631 missense variant A/T snv 0.700 1.000 1 2015 2015
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.807 0.120 6 10404631 missense variant A/T snv 0.700 1.000 1 2015 2015