rs886039902, ANKRD11

N. diseases: 6
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 cardiovascular system morphology
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
13 0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins 0.700 0
Esophageal Varices
CUI: C0014867
Disease: Esophageal Varices
5 0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins 0.700 0
KBG syndrome
CUI: C0220687
Disease: KBG syndrome
46 0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins 0.700 0
Portal Hypertension
CUI: C0020541
Disease: Portal Hypertension
9 0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins 0.700 0