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: rs267607071
rs267607071
SMARCAL1
0.925 0.320 2 216475315 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		0.800 1.000 7 2002 2015
dbSNP: rs119473033
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		0.700 1.000 11 2002 2017
dbSNP: rs119473037
rs119473037
SMARCAL1
1.000 0.280 2 216450927 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		0.700 1.000 4 2002 2015
dbSNP: rs119473033
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.700 1.000 3 2002 2014
dbSNP: rs761546902
rs761546902
SMARCAL1
1.000 0.280 2 216420297 splice acceptor variant A/G snv 1.2E-04 4.2E-05
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		0.700 1.000 2 2002 2012
dbSNP: rs766291662
rs766291662
SMARCAL1
1.000 0.280 2 216428638 frameshift variant T/- del 5.6E-05
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		0.700 1.000 1 2002 2002
dbSNP: rs119473033
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.700 0
dbSNP: rs119473033
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		0.700 0
dbSNP: rs119473033
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs119473033
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs119473033
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		0.700 0
dbSNP: rs119473033
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		0.700 0
dbSNP: rs119473033
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs119473033
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		0.700 0
dbSNP: rs119473033
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 0
dbSNP: rs119473034
rs119473034
SMARCAL1
1.000 0.280 2 216414753 stop gained C/T snv 8.0E-06
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		0.700 0
dbSNP: rs119473035
rs119473035
SMARCAL1
1.000 0.280 2 216414804 stop gained C/T snv
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		0.700 0
dbSNP: rs119473036
rs119473036
SMARCAL1
1.000 0.280 2 216435495 missense variant T/A;C snv
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		0.700 0
dbSNP: rs119473038
rs119473038
SMARCAL1
1.000 0.280 2 216447063 missense variant C/T snv 8.0E-06 1.5E-05
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		0.700 0
dbSNP: rs149425324
rs149425324
SMARCAL1
1.000 0.280 2 216475345 stop gained C/A;G;T snv 8.0E-06; 1.6E-05
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		0.700 0
dbSNP: rs1553526162
rs1553526162
SMARCAL1
1.000 0.280 2 216432766 inframe insertion -/CTGGGG delins
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		0.700 0
dbSNP: rs1553535161
rs1553535161
SMARCAL1
1.000 0.280 2 216478244 missense variant G/A snv
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		0.700 0
dbSNP: rs1559138455
rs1559138455
SMARCAL1
1.000 0.280 2 216475452 splice donor variant G/A snv
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		0.700 0
dbSNP: rs748106387
rs748106387
SMARCAL1
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
SMARCAL1
0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.700 0