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: rs748106387
rs748106387
0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 0
dbSNP: rs748106387
rs748106387
0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs748106387
rs748106387
0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect
0.700 0
dbSNP: rs748106387
rs748106387
0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
0.700 0
dbSNP: rs748106387
rs748106387
0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
0.700 0
dbSNP: rs748106387
rs748106387
0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly
0.700 0
dbSNP: rs748106387
rs748106387
0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
Disproportionate short-trunk short stature
0.700 0
dbSNP: rs748106387
rs748106387
0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
Steroid-resistant nephrotic syndrome
0.700 0
dbSNP: rs748106387
rs748106387
0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
Small for gestational age (disorder)
0.700 0