rs1555528356, ANKRD11

N. diseases: 13
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.
Atrioventricular Septal Defect
CUI: C1389018
Disease: Atrioventricular Septal Defect
19 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0
Broad eyebrow
CUI: C1856121
Disease: Broad eyebrow
4 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0
Broad forehead
CUI: C1849089
Disease: Broad forehead
13 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0
Excessive tearing
CUI: C0152227
Disease: Excessive tearing
2 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0
KBG syndrome
CUI: C0220687
Disease: KBG syndrome
46 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0
Long philtrum
CUI: C1865014
Disease: Long philtrum
16 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0
Macrostomia
CUI: C0024433
Disease: Macrostomia
11 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0
Prominent fingertip pads
CUI: C1835807
Disease: Prominent fingertip pads
8 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0
Shortening of all phalanges of fingers
1 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0
Thin lips
CUI: C0578038
Disease: Thin lips
8 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
25 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0