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 skeletal system
CUI: C4021790
Disease: Abnormality of the skeletal system
18 0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 0.700 0
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
3 0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 0.700 0
obsolete Abnormal heart morphology
CUI: C4021866
Disease: obsolete Abnormal heart morphology
13 0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 0.700 0
Small midface
CUI: C2673410
Disease: Small midface
24 0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 0.700 0