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
0.923 0.071 2 216415427 stop gained C/A,T snp 2.8E-05 3.2E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs748106387
rs748106387
0.923 0.071 2 216415427 stop gained C/A,T snp 2.8E-05 3.2E-05
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
0.700 1 2015 2015
dbSNP: rs748106387
rs748106387
0.923 0.071 2 216415427 stop gained C/A,T snp 2.8E-05 3.2E-05
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
0.700 1 2015 2015
dbSNP: rs748106387
rs748106387
0.923 0.071 2 216415427 stop gained C/A,T snp 2.8E-05 3.2E-05
Disproportionate short-trunk short stature
0.700 1 2015 2015
dbSNP: rs748106387
rs748106387
0.923 0.071 2 216415427 stop gained C/A,T snp 2.8E-05 3.2E-05
CUI: C0424688
Disease: Small head
Small head
0.700 1 2015 2015
dbSNP: rs748106387
rs748106387
0.923 0.071 2 216415427 stop gained C/A,T snp 2.8E-05 3.2E-05
Steroid-resistant nephrotic syndrome
0.700 1 2015 2015
dbSNP: rs748106387
rs748106387
0.923 0.071 2 216415427 stop gained C/A,T snp 2.8E-05 3.2E-05
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
0.700 1 2015 2015
dbSNP: rs748106387
rs748106387
0.923 0.071 2 216415427 stop gained C/A,T snp 2.8E-05 3.2E-05
Head circumference small for gestational age
0.700 1 2015 2015