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 upper lip
CUI: C4025884
Disease: Abnormality of upper lip
1 0.851 0.080 6 10404623 missense variant G/T snv 0.700 1.000 1 2015 2015
Branchial anomaly
CUI: C1862066
Disease: Branchial anomaly
3 0.851 0.080 6 10404623 missense variant G/T snv 0.700 1.000 1 2015 2015
Branchio-Oculo-Facial Syndrome
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
16 0.851 0.080 6 10404623 missense variant G/T snv 0.700 1.000 1 2015 2015
Coloboma of optic disc
CUI: C0155299
Disease: Coloboma of optic disc
14 0.851 0.080 6 10404623 missense variant G/T snv 0.700 1.000 1 2015 2015
Ectopic lacrimal punctum
CUI: C4021230
Disease: Ectopic lacrimal punctum
1 0.851 0.080 6 10404623 missense variant G/T snv 0.700 1.000 1 2015 2015
Low posterior hairline
CUI: C1855728
Disease: Low posterior hairline
11 0.851 0.080 6 10404623 missense variant G/T snv 0.700 1.000 1 2015 2015
Premature canities
CUI: C0263498
Disease: Premature canities
4 0.851 0.080 6 10404623 missense variant G/T snv 0.700 1.000 1 2015 2015
Stenosis of nasolacrimal duct
CUI: C0238300
Disease: Stenosis of nasolacrimal duct
2 0.851 0.080 6 10404623 missense variant G/T snv 0.700 1.000 1 2015 2015
Unilateral conductive hearing impairment
CUI: C4022428
Disease: Unilateral conductive hearing impairment
1 0.851 0.080 6 10404623 missense variant G/T snv 0.700 1.000 1 2015 2015