rs1057519338, AMMECR1

N. diseases: 8
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.
Abnormal renal function
CUI: C0151746
Disease: Abnormal renal function
6 0.882 X 110264571 stop gained G/A snv 0.700 0
Abnormality of the skeletal system
CUI: C4021790
Disease: Abnormality of the skeletal system
18 0.882 X 110264571 stop gained G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 X 110264571 stop gained G/A snv 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.882 X 110264571 stop gained G/A snv 0.700 0
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
CUI: C4310810
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
3 0.882 X 110264571 stop gained G/A snv 0.700 0
obsolete Abnormal heart morphology
CUI: C4021866
Disease: obsolete Abnormal heart morphology
13 0.882 X 110264571 stop gained G/A snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.882 X 110264571 stop gained G/A snv 0.700 0
Small midface
CUI: C2673410
Disease: Small midface
24 0.882 X 110264571 stop gained G/A snv 0.700 0