Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519338
rs1057519338
0.882 X 110264571 stop gained G/A snv
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology
0.700 0
dbSNP: rs1057519338
rs1057519338
0.882 X 110264571 stop gained G/A snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057519338
rs1057519338
0.882 X 110264571 stop gained G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 0
dbSNP: rs1057519338
rs1057519338
0.882 X 110264571 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057519338
rs1057519338
0.882 X 110264571 stop gained G/A snv
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
0.700 0
dbSNP: rs1057519338
rs1057519338
0.882 X 110264571 stop gained G/A snv
CUI: C2673410
Disease: Small midface
Small midface
0.700 0
dbSNP: rs1057519338
rs1057519338
0.882 X 110264571 stop gained G/A snv
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function
0.700 0
dbSNP: rs1057519338
rs1057519338
0.882 X 110264571 stop gained G/A snv
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
0.700 0