rs119473033, SMARCAL1

N. diseases: 11
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.
Schimke immunoosseous dysplasia
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
19 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 1.000 11 2002 2017
Nephrotic Syndrome
CUI: C0027726
Disease: Nephrotic Syndrome
45 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 1.000 3 2002 2014
Atrioventricular Septal Defect
CUI: C1389018
Disease: Atrioventricular Septal Defect
19 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 0
Congenital microcephaly
CUI: C2677180
Disease: Congenital microcephaly
29 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 0
Disproportionate short-trunk short stature
CUI: C1846435
Disease: Disproportionate short-trunk short stature
2 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 0
Focal glomerulosclerosis
CUI: C0017668
Disease: Focal glomerulosclerosis
50 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 0
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
34 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 0
Steroid-resistant nephrotic syndrome
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
25 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 0
Weight less than 3rd percentile
CUI: C1844806
Disease: Weight less than 3rd percentile
27 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 0