Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748106387
rs748106387
SMARCAL1
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		A 0.700 CausalMutation CLINVAR

dbSNP: rs748106387
rs748106387
SMARCAL1
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs748106387
rs748106387
SMARCAL1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs748106387
rs748106387
SMARCAL1
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		A 0.700 CausalMutation CLINVAR

dbSNP: rs748106387
rs748106387
SMARCAL1
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs748106387
rs748106387
SMARCAL1
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs748106387
rs748106387
SMARCAL1
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		A 0.700 CausalMutation CLINVAR

dbSNP: rs748106387
rs748106387
SMARCAL1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs748106387
rs748106387
SMARCAL1
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		A 0.700 CausalMutation CLINVAR